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Developmental Medicine and Child Neurology|February 5, 2017
Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathwayShruti Garg, Ami Brooks, Amy Burns, et al.Human Genetics|November 19, 2004
A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndromeKatrina Prescott, Kathryn Woodfine, Paula Stubbs, et al.Journal of Pediatric Hematology/Oncology|February 20, 2010
Juvenile myelomonocytic leukemia presenting with features of neonatal hemophagocytic lymphohistiocytosis and cutaneous juvenile xanthogranulomata and successfully treated with allogeneic hemopoietic stem cell transplantDeepa Ranjani Jayakody Arachchillage, Trevor F Carr, Bronwyn Kerr, et al.Journal of Pediatric Genetics|August 11, 2017
Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary MovementsIrena Vrečar, Josie Innes, Elizabeth A Jones, et al.Archives of Disease in Childhood|July 17, 2012
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologiesSofia Douzgou, Catherine Breen, Yanick J Crow, et al.European Journal of Human Genetics : EJHG|May 13, 2004
BRCA1/2 predictive testing: a study of uptake in two centresLucy Brooks, Fiona Lennard, Andrew Shenton, et al.Cancer Genetics|May 6, 2021
High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiencyJamie M Ellingford, Nick Telford, Jill Urquhart, et al.Human Molecular Genetics|January 5, 2002
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and colobomaRobyn V Jamieson, Rahat Perveen, Bronwyn Kerr, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 16, 2011
Cardio-facio-cutaneous syndrome: does genotype predict phenotype?Judith E Allanson, Göran Annerén, Yoki Aoki, et al.Journal of Medical Genetics|April 3, 2007
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian typeGen Nishimura, Eiji Nakashima, Yuichiro Hirose, et al.Pageof 7