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American Journal of Medical Genetics|July 13, 2002
Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7Rong Mao, Arthur S Aylsworth, Nicholas Potter, et al.
Developmental Cell|April 24, 2010
Genome-wide MyoD binding in skeletal muscle cells: a potential for broad cellular reprogrammingYi Cao, Zizhen Yao, Deepayan Sarkar, et al.
Plos One|June 22, 2012
Bacterial communities in women with bacterial vaginosis: high resolution phylogenetic analyses reveal relationships of microbiota to clinical criteriaSujatha Srinivasan, Noah G Hoffman, Martin T Morgan, et al.
The Journal of Clinical Endocrinology and Metabolism|August 12, 2021
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi SyndromeElisabeth Bosch, Moritz Hebebrand, Bernt Popp, et al.
Molecular Genetics and Metabolism|May 19, 2023
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoinM Laura Duque Lasio, Angela C Leshinski, Nicole H Ducich, et al.
Brain : a Journal of Neurology|October 6, 2022
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defectsLama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndromeCarlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2022
Highlighting the Dystonic Phenotype Related to GNAO1Thomas Wirth, Giacomo Garone, Manju A Kurian, et al.
Orphanet Journal of Rare Diseases|August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.
Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.
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