• 6170 Citations
19972022

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Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

Tekin, M., Öztürkmen Akay, H., Fitoz, S., Birnbaum, S., Cengiz, F. B., Sennaroǧlu, L., Incesulu, A., Yüksel, K., Hasanefendioǧlu Bayrak, A., Şentürk, S., Cebeci, I., Ü̈tine, G. E., Tunçbilek, E., Nance, W. E. & Duman, D., Jun 1 2008, In : Clinical Genetics. 73, 6, p. 554-565 12 p.

Research output: Contribution to journalArticle

33 Scopus citations

Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia

Tekin, M., Hişmi, B. Ö., Fitoz, S., Özdaǧ, H., Cengiz, F. B., Sirmaci, A., Aslan, I., Inceoǧlu, B., Yüksel-Konuk, E. B., Yilmaz, S. T., Yasun, Ö. & Akar, N., Feb 2007, In : American journal of human genetics. 80, 2, p. 338-344 7 p.

Research output: Contribution to journalArticle

73 Scopus citations

Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy

Yüksel-Konuk, B., SIrmacI, A., Ayten, G. E., Özdemir, M., Aslan, I., YIlmaz-Turay, Ü., Erdoǧan, Y. & Tekin, M., Nov 1 2009, In : Rheumatology International. 30, 1, p. 39-43 5 p.

Research output: Contribution to journalArticle

30 Scopus citations

HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction

Bulum, B., Özçakar, Z. B., Duman, D., Cengiz, F. B. A., Kavaz, A., Burgu, B., Baskın, E., Çakar, N., Soygür, T., Ekim, M., Tekin, M. & Yalçınkaya, F., 2015, In : Nephron. 130, 1, p. 54-58 5 p.

Research output: Contribution to journalArticle

4 Scopus citations

Hyperekplexia in a neonate: A novel finding in fukuyama type congenital muscular dystrophy

Tunc, T., Mungan, I. A., Okulu, E., Tiras, S. T., Tekin, M., Atasay, B., Arsan, S. & Turmen, T., Oct 26 2009, In : Genetic Counseling. 20, 3, p. 275-279 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction

Foster, J., Kapoor, S., Diaz-Horta, O., Singh, A., Abad, C., Rastogi, A., Moharana, R., Tekeli, O., Walz, K. & Tekin, M., Dec 1 2014, In : Clinical Genetics. 86, 6, p. 589-591 3 p.

Research output: Contribution to journalArticle

4 Scopus citations

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

McSherry, M., Masih, K. E., Elcioglu, N. H., Celik, P., Balci, O., Cengiz, F. B., Nunez, D., Sineni, C. J., Seyhan, S., Kocaoglu, D., Guo, S., Duman, D., Bademci, G. & Tekin, M., Nov 1 2018, In : PLoS One. 13, 11, e0208324.

Research output: Contribution to journalArticle

2 Scopus citations

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss

Bademci, G., Diaz-Horta, O., Guo, S., Duman, D., Van Booven, D., Foster, J., Cengiz, F. B., Blanton, S. & Tekin, M., Sep 1 2014, In : Genetic Testing and Molecular Biomarkers. 18, 9, p. 658-661 4 p.

Research output: Contribution to journalArticle

21 Scopus citations

Identification of main genetic causes responsible for non-syndromic hearing loss in a Peruvian population

Figueroa-Ildefonso, E., Bademci, G., Rajabli, F., Cornejo-Olivas, M., Villanueva, R. D. C., Badillo-Carrillo, R., Inca-Martinez, M., Neyra, K. M., Sineni, C. & Tekin, M., Aug 1 2019, In : Genes. 10, 8, 581.

Research output: Contribution to journalArticle

Open Access

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome

Yariz, K. O., Walsh, T., Uzak, A., Spiliopoulos, M., Duman, D., Onalan, G., King, M. C. & Tekin, M., Aug 1 2011, In : Fertility and sterility. 96, 2, p. e125-e130

Research output: Contribution to journalArticle

44 Scopus citations

KBG syndrome: An Australian experience

Murray, N., Burgess, B., Hay, R., Colley, A., Rajagopalan, S., McGaughran, J., Patel, C., Enriquez, A., Goodwin, L., Stark, Z., Tan, T., Wilson, M., Roscioli, T., Tekin, M. & Goel, H., Jul 1 2017, In : American Journal of Medical Genetics, Part A. 173, 7, p. 1866-1877 12 p.

Research output: Contribution to journalArticle

10 Scopus citations

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Hucthagowder, V., Morava, E., Kornak, U., Lefeber, D. J., Fischer, B., Dimopoulou, A., Aldinger, A., Choi, J., Davis, E. C., Abuelo, D. N., Adamowicz, M., Al-Aama, J., Basel-Vanagaite, L., Fernandez, B., Greally, M. T., Gillessen-Kaesbach, G., Kayserili, H., Lemyre, E., Tekin, M., Türkmen, S. & 6 others, Tuysuz, B., Yüksel-Konuk, B., Mundlos, S., Van Maldergem, L., Wevers, R. A. & Urban, Z., Jun 4 2009, In : Human molecular genetics. 18, 12, p. 2149-2165 17 p.

Research output: Contribution to journalArticle

73 Scopus citations

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Undiagnosed Diseases Network, Jun 6 2019, In : American journal of human genetics. 104, 6, p. 1127-1138 12 p.

Research output: Contribution to journalArticle

4 Scopus citations

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Undiagnosed Diseases Network (UDN) & Members of the Undiagnosed Diseases Network, Nov 1 2019, In : Clinical Imaging. 58, p. 108-113 6 p.

Research output: Contribution to journalArticle

Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum whereas neither MASP-1 nor MASP-3 is required for alternative pathway function

Degn, S. E., Jensen, L., Hansen, A. G., Duman, D., Tekin, M., Jensenius, J. C. & Thiel, S., Oct 15 2012, In : Journal of Immunology. 189, 8, p. 3957-3969 13 p.

Research output: Contribution to journalArticle

106 Scopus citations

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of carnevale, malpuech, OSA, and michels syndromes

Sirmaci, A., Walsh, T., Akay, H., Spiliopoulos, M., Şakalar, Y. B., Hasanefendioǧlu-Bayrak, A., Duman, D., Farooq, A., King, M. C. & Tekin, M., Nov 12 2010, In : American journal of human genetics. 87, 5, p. 679-686 8 p.

Research output: Contribution to journalArticle

91 Scopus citations

MEFV mutations in multiplex families with familial Mediterranean fever: Is a particular genotype necessary for amyloidosis?

Tekin, M., Yalçinkaya, F., Çakar, N., Akar, N., Misirlioǧlu, M., Taştan, H. & Tümer, N., Jun 27 2000, In : Clinical Genetics. 57, 6, p. 430-434 5 p.

Research output: Contribution to journalArticle

36 Scopus citations

Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism

Ikinciogullari, A., Tekin, M., Dogu, F., Reisli, I., Tanir, G., Yi, Z., Garrison, N., Brilliant, M. H. & Babacan, E., Mar 1 2005, In : European Journal of Pediatrics. 164, 3, p. 177-179 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

MLL2 and KDM6A mutations in patients with Kabuki syndrome

Miyake, N., Koshimizu, E., Okamoto, N., Mizuno, S., Ogata, T., Nagai, T., Kosho, T., Ohashi, H., Kato, M., Sasaki, G., Mabe, H., Watanabe, Y., Yoshino, M., Matsuishi, T., Takanashi, J. I., Shotelersuk, V., Tekin, M., Ochi, N., Kubota, M., Ito, N. & 23 others, Ihara, K., Hara, T., Tonoki, H., Ohta, T., Saito, K., Matsuo, M., Urano, M., Enokizono, T., Sato, A., Tanaka, H., Ogawa, A., Fujita, T., Hiraki, Y., Kitanaka, S., Matsubara, Y., Makita, T., Taguri, M., Nakashima, M., Tsurusaki, Y., Saitsu, H., Yoshiura, K. I., Matsumoto, N. & Niikawa, N., Sep 1 2013, In : American Journal of Medical Genetics, Part A. 161, 9, p. 2234-2243 10 p.

Research output: Contribution to journalArticle

79 Scopus citations

Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene

Tekin, M., Duman, T., Boǧoçlu, G., Incesulu, A., Cin, Ş. & Akar, N., Dec 1 2003, In : Genetic Counseling. 14, 4, p. 379-386 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Modulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentition

Charles, C., Lazzari, V., Tafforeau, P., Schimmang, T., Tekin, M., Klein, O. & Viriot, L., Dec 19 2009, In : Proceedings of the National Academy of Sciences of the United States of America. 106, 52, p. 22364-22368 5 p.

Research output: Contribution to journalArticle

34 Scopus citations

Molecular characterization of a ring X chromosome in a male with short stature

Ellison, J. W., Tekin, M., Sikes, K. S., Yankowitz, J., Shapiro, L., Rappold, G. A. & Neely, E. K., Apr 1 2002, In : Human Genetics. 110, 4, p. 322-326 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Su, M., Benke, P. J., Bademci, G., Cengiz, F. B., Ouyang, X., Peng, J., Casas, C. E., Tekin, M. & Fan, Y-S., Aug 1 2018, In : Molecular Cytogenetics. 11, 1, 43.

Research output: Contribution to journalArticle

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

Garg, N., Bademci, G., Foster, J., Siklar, Z., Berberoglu, M. & Tekin, M., Aug 1 2015, In : Journal of Pediatrics. 167, 2, p. 489-491 3 p.

Research output: Contribution to journalArticle

5 Scopus citations

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Bademci, G., Abad, C., Incesulu, A., Rad, A., Alper, O., Kolb, S. M., Cengiz, F. B., Diaz-Horta, O., Silan, F., Mihci, E., Ocak, E., Najafi, M., Maroofian, R., Yilmaz, E., Nur, B. G., Duman, D., Guo, S., Sant, D. W., Wang, G., Monje, P. V. & 5 others, Haaf, T., Blanton, S. H., Vona, B., Walz, K. & Tekin, M., Jul 1 2018, In : Human genetics. 137, 6-7, p. 479-486 8 p.

Research output: Contribution to journalArticle

3 Scopus citations

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy

Elkan, P. N., Pierce, S. B., Segel, R., Walsh, T., Barash, J., Padeh, S., Zlotogorski, A., Berkun, Y., Press, J. J., Mukamel, M., Voth, I., Hashkes, P. J., Harel, L., Hoffer, V., Ling, E., Yalcinkaya, F., Kasapcopur, O., Lee, M. K., Klevit, R. E., Renbaum, P. & 15 others, Weinberg-Shukron, A., Sener, E. F., Schormair, B., Zeligson, S., Marek-Yagel, D., Strom, T. M., Shohat, M., Singer, A., Rubinow, A., Pras, E., Winkelmann, J., Tekin, M., Anikster, Y., King, M. C. & Levy-Lahad, E., Jan 1 2014, In : New England Journal of Medicine. 370, 10, p. 921-931 11 p.

Research output: Contribution to journalArticle

256 Scopus citations

Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise

Yan, D., Zhu, Y., Walsh, T., Xie, D., Yuan, H., Sirmaci, A., Fujikawa, T., Wong, A. C. Y., Loh, T. L., Du, L., Grati, M., Vlajkovic, S. M., Blanton, S., Ryan, A. F., Chen, Z. Y., Thorne, P. R., Kachar, B., Tekin, M., Zhao, H. B., Housley, G. D. & 2 others, King, M. C. & Liu, X. Z., Feb 5 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 6, p. 2228-2233 6 p.

Research output: Contribution to journalArticle

71 Scopus citations

Mutation Screening of the GJA7 (Cx45) Gene in a Large International Series of Probands with Nonsyndromic Hearing Impairment

Ouyang, X. M., Yan, D., Aslan, I., Du, L. L., Tekin, M. & Liu, X. Z., May 1 2011, In : Genetic Testing and Molecular Biomarkers. 15, 5, p. 333-336 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S. & Tekin, M., Aug 12 2011, In : American journal of human genetics. 89, 2, p. 289-294 6 p.

Research output: Contribution to journalArticle

114 Scopus citations

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Kim, H. G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., Kang, G. B., Rosenberger, G., Tekin, M., Ozata, M., Bick, D. P., Sherins, R. J., Walker, S. L., Shi, Y., Gusella, J. F. & Layman, L. C., Oct 10 2008, In : American journal of human genetics. 83, 4, p. 511-519 9 p.

Research output: Contribution to journalArticle

199 Scopus citations

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

Liu, X. Z., Xia, X. J., Adams, J., Chen, Z. Y., Welch, K. O., Tekin, M., Ouyang, X. M., Kristiansen, A., Pandya, A., Balkany, T., Arnos, K. S. & Nance, W. E., Dec 1 2001, In : Human molecular genetics. 10, 25, p. 2945-2951 7 p.

Research output: Contribution to journalArticle

110 Scopus citations

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss

Yariz, K. O., Duman, D., Seco, C. Z., Dallman, J., Huang, M., Peters, T. A., Sirmaci, A., Lu, N., Schraders, M., Skromne, I., Oostrik, J., Diaz-Horta, O., Young, J. I., Tokgoz-Yilmaz, S., Konukseven, O., Shahin, H., Hetterschijt, L., Kanaan, M., Oonk, A. M. M., Edwards, Y. J. K. & 10 others, Li, H., Atalay, S., Blanton, S., Desmidt, A. A., Liu, X. Z., Pennings, R. J. E., Lu, Z., Chen, Z. Y., Kremer, H. & Tekin, M., Nov 2 2012, In : American journal of human genetics. 91, 5, p. 872-882 11 p.

Research output: Contribution to journalArticle

65 Scopus citations

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

Ming, J. E., Kaupas, M. E., Roessler, E., Brunner, H. G., Golabi, M., Tekin, M., Stratton, R. F., Sujansky, E., Bale, S. J. & Muenke, M., Apr 1 2002, In : Human Genetics. 110, 4, p. 297-301 5 p.

Research output: Contribution to journalArticle

177 Scopus citations

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

Sirmaci, A., Duman, D., Öztürkmen-Akay, H., Erbek, S., Incesulu, A., Öztürk-Hişmi, B., Arici, Z. S., Yüksel-Konuk, E. B., Taşir-Yilmaz, S., Tokgöz-Yilmaz, S., Cengiz, F. B., Aslan, I., Yildirim, M., Hasanefendioǧlu-Bayrak, A., Ayçiçek, A., Yilmaz, I., Fitoz, S., Altin, F., Özdaǧ, H. & Tekin, M., May 1 2009, In : International Journal of Pediatric Otorhinolaryngology. 73, 5, p. 699-705 7 p.

Research output: Contribution to journalArticle

35 Scopus citations

MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform

Grati, M., Yan, D., Raval, M. H., Walsh, T., Ma, Q., Chakchouk, I., Kannan-Sundhari, A., Mittal, R., Masmoudi, S., Blanton, S. H., Tekin, M., King, M. C., Yengo, C. M. & Liu, X. Z., 2016, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

8 Scopus citations

Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: Evidence for a wide spectrum of inner ear abnormalities

Tekin, M., Fitoz, S., Arici, S., Cetinkaya, E. & Incesulu, A., May 1 2006, In : International Journal of Pediatric Otorhinolaryngology. 70, 5, p. 885-889 5 p.

Research output: Contribution to journalArticle

12 Scopus citations

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy

Garg, N., Kasapcopur, O., Foster, J., Barut, K., Tekin, A., Kızılkılıç, O. & Tekin, M., Jun 2014, In : European Journal of Pediatrics. 173, 6, p. 827-830 4 p.

Research output: Contribution to journalArticle

41 Scopus citations

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

Bademci, G., Lasisi, A., Yariz, K. O., Montenegro, P., Menendez, I., Vinueza, R., Paredes, R., Moreta, G., Subasioglu, A., Blanton, S. H., Fitoz, S., Incesulu, A., Sennaroglu, L. & Tekin, M., 2015, In : BMC Medical Genetics. 16, p. 9 1 p.

Research output: Contribution to journalArticle

8 Scopus citations

Novel EYA1 variants causing Branchio-oto-renal syndrome

Klingbeil, K. D., Greenland, C. M., Arslan, S., Llamos Paneque, A., Gurkan, H., Demir Ulusal, S., Maroofian, R., Carrera-Gonzalez, A., Montufar-Armendariz, S., Paredes, R., Elcioglu, N., Menendez, I., Behnam, M., Foster, J., Guo, S., Escarfuller, S., Cengiz, F. B., Duman, D., Bademci, G. & Tekin, M., Jul 1 2017, In : International Journal of Pediatric Otorhinolaryngology. 98, p. 59-63 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Atik, T., Koparir, A., Bademci, G., Foster, J., Altunoglu, U., Mutlu, G. Y., Bowdin, S., Elcioglu, N., Tayfun, G. A., Atik, S. S., Ozen, M., Ozkinay, F., Alanay, Y., Kayserili, H., Thiel, S. & Tekin, M., Sep 30 2015, In : Orphanet journal of rare diseases. 10, 1, 128.

Research output: Contribution to journalArticle

19 Scopus citations

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

Chakchouk, I., Grati, M., Bademci, G., Bensaid, M., Ma, Q., Chakroun, A., Foster, J., Yan, D., Duman, D., Diaz-Horta, O., Ghorbel, A., Mittal, R., Farooq, A., Tekin, M., Masmoudi, S. & Liu, X. Z., Aug 25 2015, In : Molecular Genetics and Genomics. 290, 4, p. 1327-1334 8 p.

Research output: Contribution to journalArticle

15 Scopus citations

Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir

Kuchay, R. A. H., Mir, Y. R., Zeng, X., Hassan, A., Namba, K. & Tekin, M., Mar 2020, In : International Journal of Pediatric Otorhinolaryngology. 130, 109831.

Research output: Contribution to journalArticle

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

Cengiz, F. B., Yilmazer, R., Olgun, L., Sennaroglu, L., Kirazli, T., Alper, H., Olgun, Y., Incesulu, A., Atik, T., Huesca-Hernandez, F., Domínguez-Aburto, J., González-Rosado, G., Hernandez-Zamora, E., Arenas-Sordo, M. D. L. L., Menendez, I., Orhan, K. S., Avci, H., Mahdieh, N., Bonyadi, M., Foster, J. & 5 others, Duman, D., Ozkinay, F., Blanton, S. H., Bademci, G. & Tekin, M., Oct 1 2017, In : International Journal of Pediatric Otorhinolaryngology. 101, p. 167-171 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

Diaz-Horta, O., Bademci, G., Tokgoz-Yilmaz, S., Guo, S., Zafeer, F., Sineni, C. J., Duman, D., Farooq, A. & Tekin, M., Jan 1 2019, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Ophthalmo-acromelic syndrome: Report and review

Tekin, M., Tutar, E., Arsan, S., Atay, G. & Bodurtha, J., Jan 17 2000, In : American journal of medical genetics. 90, 2, p. 150-154 5 p.

Research output: Contribution to journalArticle

20 Scopus citations

Oromandibular-limb hypogenesis spectrum and maternal lithium use

Tekin, M. & Ellison, J., Jan 1 2000, In : Clinical Dysmorphology. 9, 2, p. 139-141 3 p.

Research output: Contribution to journalArticle

6 Scopus citations

Oxygen free radical-dependent increased platelet function in β- thalassemia major patients

Pasin, M., Yavuzer, S., Tekin, M., Akar, N. & Violi, F., Dec 15 1998, In : Thrombosis Research. 92, 6, p. 283-286 4 p.

Research output: Contribution to journalArticle

11 Scopus citations

Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome

Ergür, A. T., Öcal, G., Berberoglu, M., Tekin, M., Kiliç, B. G., Aycan, Z., Kutlu, A., Adiyaman, P., Siklar, Z., Akar, N., Sahin, A. & Akçayöz, D., Apr 1 2008, In : Pediatrics International. 50, 2, p. 172-174 3 p.

Research output: Contribution to journalArticle

9 Scopus citations

Personalized medicine for hereditary deafness

Ord��ez, J., Diaz-Horta, O. & Tekin, M., Jan 1 2015, In : Advances in Predictive, Preventive and Personalised Medicine. 6, p. 47-59 13 p.

Research output: Contribution to journalArticle

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Hilgert, N., Huentelman, M. J., Thorburn, A. Q., Fransen, E., Dieltjens, N., Mueller-Malesinska, M., Pollak, A., Skorka, A., Waligora, J., Ploski, R., Castorina, P., Primignani, P., Ambrosetti, U., Murgia, A., Orzan, E., Pandya, A., Arnos, K., Norris, V., Seeman, P., Janousek, P. & 37 others, Feldmann, D., Marlin, S., Denoyelle, F., Nishimura, C. J., Janecke, A., Nekahm-Heis, D., Martini, A., Mennucci, E., Tóth, T., Sziklai, I., del Castillo, I., Moreno, F., Petersen, M. B., Iliadou, V., Tekin, M., Incesulu, A., Nowakowska, E., Bal, J., Van de Heyning, P., Roux, A. F., Blanchet, C., Goizet, C., Lancelot, G., Fialho, G., Caria, H., Liu, X. Z., Xiaomei, O., Govaerts, P., Grønskov, K., Hostmark, K., Frei, K., Dhooge, I., Vlaeminck, S., Kunstmann, E., Van Laer, L., Smith, R. J. H. & Van Camp, G., Jan 1 2009, In : European Journal of Human Genetics. 17, 4, p. 517-524 8 p.

Research output: Contribution to journalArticle

36 Scopus citations