Showing results (41-50 of 170) with videos related to

Sort By:
Pageof 17
Human Molecular Genetics|April 8, 2014
CHARGE and Kabuki syndromes: a phenotypic and molecular linkYvonne Schulz, Luisa Freese, Johanna Mänz, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 regionNursel H Elcioglu, Burcu Akin, Ebru Toker, et al.
The Pan African Medical Journal|August 16, 2021
Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case reportSiham Chafai Elalaoui, Nawfal Fejjal, Yun Li, et al.
Human Molecular Genetics|January 31, 2022
Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signaturesIpek Ilgin Gönenc, Alexander Wolff, Julia Schmidt, et al.
Molecular Syndromology|April 8, 2020
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival HyperplasiaChristiane M Neuhofer, Rudolf Funke, Bernd Wilken, et al.
British Journal of Pharmacology|November 2, 2002
The antihistamine fexofenadine does not affect I(Kr) currents in a case report of drug-induced cardiac arrhythmiaConstanze R Scherer, Christian Lerche, Niels Decher, et al.
Human Genetics|January 24, 2024
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromesJulia Schmidt, Silke Kaulfuß, Hagen Ott, et al.
Scientific Reports|March 9, 2022
A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing diseaseOrr Shomroni, Maren Sitte, Julia Schmidt, et al.
European Journal of Human Genetics : EJHG|October 11, 2021
Familial cleft tongue caused by a unique translation initiation codon variant in TP63Julia Schmidt, Gudrun Schreiber, Janine Altmüller, et al.
Plos One|May 11, 2010
Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndromeCourtney M Karner, Martin F Dietrich, Eric B Johnson, et al.
Pageof 17