Browse by Journal Title

Article

Expanding the spectrum of EEF1D neurodevelopmental disorders: biallelic variants in the guanine exchange domain.
Averdunk, L., Al-Thihli, K., Surowy, H., Lüdecke, H.J., Drechsler, M., Yigit, G., Smorag, L., Hallak, B.A., Li, Y., Altmüller, J., Guthoff, T., Wallot, M., Nürnberg, P., Wollnik, B., Abou Jamra, R., 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., Elcioglu, N.H., Martinez Grijalva, C., Aras, S., Großmann, N., Praulich, I., Altmüller, J., Kaulfuß, S., Li, Y., Nürnberg, P., Burfeind, P., 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., Aly, M.A., Mohamed, M.R., Breß, A., Altmüller, J., Motameny, S., Kawalia, A., Thiele, H., Konrad, K., Becker, C., Toliat, M.R., Nürnberg, G., Sayed, E.A.F., Mohamed, E.S., 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., Herbst, C., Al-Wakeel-Marquard, N., Dartsch, J., Holtgrewe, M., Baban, A., Mearini, G., Hardt, J., Kolokotronis, K., Gerull, B., Carrier, L., Beule, D., Schubert, S., Messroghli, D., Degener, F., Berger, F. and Klaassen, S.
Clinical Genetics 96 (6): 549-559. December 2019

Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad, I., Baig, S.M., Abdulkareem, A.R., Hussain, M.S., Sur, I., Toliat, M.R., Nürnberg, G., Dalibor, N., Moawia, A., Waseem, S.S., Asif, M., Nagra, H., Sher, M., Khan, M.M.A., Hassan, I., Rehman, S.U., Thiele, H., Altmüller, J., 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., Solomon, S.D., Ajani, U.A., 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., Baron, H., Mueller-Myhsok, B., Knoblauch, H., Al-Yahyaee, S.A., Hui, R., Wu, X., Liu, L., Busjahn, A., 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., Stumm, M., Bialecka, M., Saar, K., Bernatowska-Matuszkiewicz, E., Michalkiewicz, J., Barszcz, S., 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., Manke, C., Fischer, J., Keller, C., 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., Talmud, P., Schuster, H., Houlston, R., 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., Thies, U., Braulke, I., 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., Loeys, B., Altmüller, J., Mortier, G., Nürnberg, P., Li, Y., Wollnik, B. and Vogel, I.
Clinical Genetics 92 (3): 342-343. September 2017

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

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