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American Journal of Medical Genetics. Part A|March 13, 2012
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencingEri Kondo, Takafumi Nishimura, Tomoki Kosho, et al.American Journal of Medical Genetics. Part A|March 13, 2012
Male sex bias in placental dysfunctionAlly Murji, Leslie K Proctor, Andrew D Paterson, et al.American Journal of Medical Genetics. Part A|March 14, 2012
Audiological findings in Williams syndrome: a study of 69 patientsStefania Barozzi, Daniela Soi, Elisabetta Comiotto, et al.American Journal of Medical Genetics. Part A|March 16, 2012
Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7Piranit Nik Kantaputra, Saranya Thawanaphong, Witchapong Issarangporn, et al.American Journal of Medical Genetics. Part A|May 29, 2012
Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palateAndreas Tzschach, Ute Grasshoff, Karin Schäferhoff, et al.American Journal of Medical Genetics. Part A|November 10, 2011
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromesValeria Serra, Marco Castori, Mauro Paradisi, et al.American Journal of Medical Genetics. Part A|August 3, 2018
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year periodHsiang-Yu Lin, Chih-Kuang Chuang, Chung-Lin Lee, et al.American Journal of Medical Genetics. Part A|August 7, 2018
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillanceKelly L Jones, Erin A McNamara, Mauro Longoni, et al.American Journal of Medical Genetics. Part A|September 22, 2018
Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic featuresCaleb P Bupp, Chad R Schultz, Katie L Uhl, et al.American Journal of Medical Genetics. Part A|September 22, 2018
Risk of Down syndrome birth: Consanguineous marriage is associated with maternal meiosis-II nondisjunction at younger age and without any detectable recombination errorAnirban Ray, Tiffany Rene Oliver, Pinku Halder, et al.Pageof 929