Bibliotecas PUC-SP - Busca Integrada

Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review

由 Hobia Gole, Raymond Chuk, David Coman
發表在 Clinics and Practice (2016-08-01)

SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment

由 Lauren Swan, John Cardinal, David Coman
發表在 Clinics and Practice (2018-08-01)

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency

由 Marcia A. Munoz, Julie Jurczyluk, Anna Simon, Pravin Hissaria, Rob J. W. Arts, David Coman, David Coman, David Coman, Christina Boros, Sam Mehr, Michael J. Rogers
發表在 Frontiers in Immunology (2019-08-01)

Septic arthritis of the temporomandibular joint in an infant

由 Raymond Chuk, John Arvier, Barbara Laing, David Coman
發表在 Clinics and Practice (2015-07-01)

Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations

由 Hannah C. Leeson, Denise Goh, David Coman, Ernst J. Wolvetang
發表在 Stem Cell Research (2022-10-01)

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome

由 Anand Ramineni BSc, MBBS, GSCpMed, David Coman MBBS, MPhil, FRACP
發表在 Child Neurology Open (2016-08-01)

Pediatric Hereditary Neuralgic Amyotrophy

由 Raymond Chuk MBBS, Megan Sheppard MBBS, Geoff Wallace MBBS, FRACP, David Coman MBBS, MPhil, FRACP
發表在 Child Neurology Open (2016-09-01)

3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

由 Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won‐Tae Kim, Maina P. Kava, Avihu Boneh, David Coman, Adviye Ayper Tolun, Kaustuv Bhattacharya
發表在 JIMD Reports (2022-11-01)

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

由 Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, Michelle Lipke, Carolyn Bursle, Aoife Elliott, Anita Inwood, Leanne Foyn, Brett McWhinney, David Coman, Jim McGill
發表在 JIMD Reports (2022-09-01)

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

由 Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava
發表在 JIMD Reports (2020-01-01)

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

由 Rocio Rius, Alison G. Compton, Naomi L. Baker, AnneMarie E. Welch, David Coman, Maina P. Kava, Andre E. Minoche, Mark J. Cowley, David R. Thorburn, John Christodoulou
發表在 Genes (2021-04-01)

Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia

由 Abrey J. Yeo, Kok L. Chong, Magtouf Gatei, Dongxiu Zou, Romal Stewart, Sarah Withey, Ernst Wolvetang, Robert G. Parton, Adam D. Brown, Michael B. Kastan, David Coman, Martin F. Lavin
發表在 iScience (2021-01-01)

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia

由 David Coman FRACP, Tom Fullston PhD, Cheryl Shoubridge PhD, Richard Leventer PhD, Flora Wong FRACP, Simon Nazaretian FRCPA, Ian Simpson FRCPA, Josef Gecz PhD, George McGillivray FRACP
發表在 Child Neurology Open (2017-11-01)