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Pediatrics|January 11, 2012
Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4Isabel Filges, Andrea Bischof-Renner, Benno Röthlisberger, et al.
Genes|December 23, 2022
Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal AnomaliesSeher Basaran, Recep Has, Ibrahim Halil Kalelioglu, et al.
European Journal of Human Genetics : EJHG|January 26, 2019
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveriesNicole Meier, Elisabeth Bruder, Olav Lapaire, et al.
American Journal of Human Genetics|February 12, 2005
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause diseaseJeroen H Roelfsema, Stefan J White, Yavuz Ariyürek, et al.
Orphanet Journal of Rare Diseases|February 28, 2013
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneitySmail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) geneAude-Annick Suter, Peter Itin, Karl Heinimann, et al.
Gene|January 14, 2012
High resolution array in the clinical approach to chromosomal phenotypesIsabel Filges, Luzia Suda, Peter Weber, et al.
American Journal of Human Genetics|January 1, 2013
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaCéline Huber, Eissa Ali Faqeih, Deborah Bartholdi, et al.
Plos One|December 24, 2010
Microarray-based maps of copy-number variant regions in European and sub-Saharan populationsChristian Vogler, Leo Gschwind, Benno Röthlisberger, et al.
American Journal of Medical Genetics. Part A|January 20, 2007
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathiesMarja Majava, Kristien P Hoornaert, Deborah Bartholdi, et al.
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