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Article

Expanding the spectrum of EEF1D neurodevelopmental disorders: biallelic variants in the guanine exchange domain.
Averdunk, L. and Al-Thihli, K. and Surowy, H. and Lüdecke, H.J. and Drechsler, M. and Yigit, G. and Smorag, L. and Hallak, B.A. and Li, Y. and Altmüller, J. and Guthoff, T. and Wallot, M. and Nürnberg, P. and Wollnik, B. and Abou Jamra, R. and Al-Maawali, A. and Wieczorek, D.
Clinical Genetics 103 (4): 484-491. April 2023

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Gönenc, I.I. and Elcioglu, N.H. and Martinez Grijalva, C. and Aras, S. and Großmann, N. and Praulich, I. and Altmüller, J. and Kaulfuß, S. and Li, Y. and Nürnberg, P. and Burfeind, P. and Yigit, G. and Wollnik, B.
Clinical Genetics 101 (5-6): 559-564. May 2022

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Budde, B.S. and Aly, M.A. and Mohamed, M.R. and Breß, A. and Altmüller, J. and Motameny, S. and Kawalia, A. and Thiele, H. and Konrad, K. and Becker, C. and Toliat, M.R. and Nürnberg, G. and Sayed, E.A.F. and Mohamed, E.S. and Pfister, M. and Nürnberg, P.
Clinical Genetics 98 (1): 32-42. July 2020

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Kühnisch, J. and Herbst, C. and Al-Wakeel-Marquard, N. and Dartsch, J. and Holtgrewe, M. and Baban, A. and Mearini, G. and Hardt, J. and Kolokotronis, K. and Gerull, B. and Carrier, L. and Beule, D. and Schubert, S. and Messroghli, D. and Degener, F. and Berger, F. and Klaassen, S.
Clinical Genetics 96 (6): 549-559. December 2019

Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad, I. and Baig, S.M. and Abdulkareem, A.R. and Hussain, M.S. and Sur, I. and Toliat, M.R. and Nürnberg, G. and Dalibor, N. and Moawia, A. and Waseem, S.S. and Asif, M. and Nagra, H. and Sher, M. and Khan, M.M.A. and Hassan, I. and Rehman, S.U. and Thiele, H. and Altmüller, J. and Noegel, A.A. and Nürnberg, P.
Clinical Genetics 92 (1): 62-68. July 2017

A prospective evaluation of the angiotensin-converting enzyme D/I polymorphism and left ventricular remodeling in the 'Healing and Early Afterload Reducing Therapy' Study.
Zee, R.Y.L. and Solomon, S.D. and Ajani, U.A. and Pfeffer, M.A. and Lindpaintner, K.
Clinical Genetics 61 (1): 21-25. January 2002

Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in chinese and german families.
Pei, W. and Baron, H. and Mueller-Myhsok, B. and Knoblauch, H. and Al-Yahyaee, S.A. and Hui, R. and Wu, X. and Liu, L. and Busjahn, A. and Luft, F.C. and Schuster, H.
Clinical Genetics 57 : 29-34. 1 January 2000

Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.
Chrzanowska, K. and Stumm, M. and Bialecka, M. and Saar, K. and Bernatowska-Matuszkiewicz, E. and Michalkiewicz, J. and Barszcz, S. and Reis, A. and Wegner, R.D.
Clinical Genetics 51 : 309-313. 1 January 1997

Identification of the valine 408 to methionine mutation in the LDL receptor in a greek patient with homozygous familial hypercholesterolemia.
Schuster, H. and Manke, C. and Fischer, J. and Keller, C. and Wolfram, G. and Zoellner, N.
Clinical Genetics 48 (2): 90-92. 1 January 1995

Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia.
Xu, C.F. and Talmud, P. and Schuster, H. and Houlston, R. and Miller, G. and Humphries, S.
Clinical Genetics 46 : 385-397. 1 December 1994

Down syndrome and male fertility: PCR-derived fingerprinting, serological and andrological investigations.
Zuehlke, C. and Thies, U. and Braulke, I. and Reis, A. and Schirren, C.
Clinical Genetics 46 : 324-326. 1 January 1994

Letter

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Moosa, S. and Loeys, B. and Altmüller, J. and Mortier, G. and Nürnberg, P. and Li, Y. and Wollnik, B. and Vogel, I.
Clinical Genetics 92 (3): 342-343. September 2017

Genetic causes of MCPH in consanguineous Pakistani families.
Kraemer, N. and Picker-Minh, S. and Abbasi, A.A. and Froehler, S. and Ninnemann, O. and Khan, M.N. and Ali, G. and Chen, W. and Kaindl, A.M.
Clinical Genetics 89 (6): 744-745. June 2016

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
Moosa, S. and Chung, B.H.Y. and Tung, J.Y.L. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Netzer, C. and Nishimura, G. and Wollnik, B.
Clinical Genetics 89 (4): 517-519. April 2016