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American Journal of Medical Genetics. Part A|August 13, 2005
Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriolMarwan Shinawi, Sara Szabo, Edwina Popek, et al.American Journal of Medical Genetics. Part A|November 15, 2015
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thriveJennifer E Posey, Nikki Mohrbacher, Janice L Smith, et al.Pediatric Hematology and Oncology|March 11, 2022
Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi SyndromeKristen J Kurtz, Eran Tallis, Andrea N Marcogliese, et al.Journal of Developmental and Behavioral Pediatrics : JDBP|June 16, 2006
Cognitive and adaptive behavior profiles in Smith-Magenis syndromeNiru Madduri, Sarika U Peters, Robert G Voigt, et al.American Journal of Medical Genetics. Part A|April 6, 2011
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunctionSara Andrabi, Mir Reza Bekheirnia, Patricia Robbins-Furman, et al.American Journal of Medical Genetics. Part A|July 14, 2020
Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLSRachel Franciskovich, Claudia Soler-Alfonso, Juanita Neira-Fresneda, et al.Muscle & Nerve|January 21, 2016
Utility of whole exome sequencing in evaluation of juvenile motor neuron diseaseSonika Agarwal, Lorraine Potocki, Talia R Collier, et al.American Journal of Medical Genetics. Part A|December 7, 2013
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndromePilar L Magoulas, Pengfei Liu, Violet Gelowani, et al.Human Genetics|November 27, 2004
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndromeWeimin Bi, G Mustafa Saifi, Christine J Shaw, et al.International Journal of Pediatric Endocrinology|August 24, 2011
Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutationMeenal S Mendiratta, Yaping Yang, Andrea E Balazs, et al.Pageof 9