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Lynne M Bird

Showing results (91-100 of 120) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|January 3, 2026
Diazoxide Choline Extended-Release Tablets in Prader-Willi Syndrome: A Randomized, Double-Blind, Withdrawal Period StudyJennifer L Miller, Nicola Bridges, Eric I Felner, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 19, 2019
Rare SUZ12 variants commonly cause an overgrowth phenotypeSharri S Cyrus, Ana S A Cohen, Ruky Agbahovbe, et al.
Brain : a Journal of Neurology|June 30, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletionJeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
A randomized controlled trial of levodopa in patients with Angelman syndromeWen-Hann Tan, Lynne M Bird, Anjali Sadhwani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental DisordersRamy Saad, Clementina Cobolli Gigli, Pleuntje J van der Sluijs, et al.
Pediatric Neurology|July 3, 2026
Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research DatabaseSarah Nelson Potter, Carlos Petzold, Katie Garbarini, et al.
American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
American Journal of Human Genetics|September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with SeizuresCandace T Myers, Nicholas Stong, Emily I Mountier, et al.
Human Mutation|June 22, 2022
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlationsGeeske M van Woerden, Richelle Senden, Charlotte de Konink, et al.
Pageof 12

Showing results (91-100 of 120) with videos related to

Sort By:
Pageof 12
The Journal of Clinical Endocrinology and Metabolism|January 3, 2026
Diazoxide Choline Extended-Release Tablets in Prader-Willi Syndrome: A Randomized, Double-Blind, Withdrawal Period StudyJennifer L Miller, Nicola Bridges, Eric I Felner, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 19, 2019
Rare SUZ12 variants commonly cause an overgrowth phenotypeSharri S Cyrus, Ana S A Cohen, Ruky Agbahovbe, et al.
Brain : a Journal of Neurology|June 30, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletionJeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
A randomized controlled trial of levodopa in patients with Angelman syndromeWen-Hann Tan, Lynne M Bird, Anjali Sadhwani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental DisordersRamy Saad, Clementina Cobolli Gigli, Pleuntje J van der Sluijs, et al.
Pediatric Neurology|July 3, 2026
Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research DatabaseSarah Nelson Potter, Carlos Petzold, Katie Garbarini, et al.
American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
American Journal of Human Genetics|September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with SeizuresCandace T Myers, Nicholas Stong, Emily I Mountier, et al.
Human Mutation|June 22, 2022
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlationsGeeske M van Woerden, Richelle Senden, Charlotte de Konink, et al.
Pageof 12