Showing results (31-40 of 107) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|February 14, 2006
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocationPaweł Stankiewicz, Alma Kuechler, C Daniel Eller, et al.
Orphanet Journal of Rare Diseases|January 23, 2021
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndromeRobert Meyer, Matthias Begemann, Christian Thomas Hübner, et al.
European Journal of Medical Genetics|August 17, 2021
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare diseaseKatharina Khuller, Gökhan Yigit, Carolina Martínez Grijalva, et al.
The Journal of Pathology|October 2, 2021
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvementAndrea Gangfuß, Artur Czech, Andreas Hentschel, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Nicola Dikow, Bianca Maas, Harald Gaspar, et al.
Molecular Cytogenetics|March 16, 2018
Parental origin of deletions and duplications - about the necessity to check for cryptic inversionsThomas Liehr, Isolde Schreyer, Alma Kuechler, et al.
American Journal of Medical Genetics. Part A|September 12, 2015
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?Karl Hackmann, Andreas Rump, Stefan A Haas, et al.
American Journal of Medical Genetics. Part A|June 1, 2016
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndromeNataliya Di Donato, Alma Kuechler, Samantha Vergano, et al.
Open Biology|July 11, 2023
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme QChiara Diquigiovanni, Nicola Rizzardi, Antje Kampmeier, et al.
Human Mutation|March 1, 2020
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic featuresRami A Ballout, Cheryl Dickerson, Myra J Wick, et al.
Pageof 11