Bibliotecas PUC-SP - Busca Integrada

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

Yazar: Hobia Gole, Raymond Chuk, David Coman
Yayımlandı Clinics and Practice (2016-08-01)

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

Yazar: Lauren Swan, John Cardinal, David Coman
Yayımlandı Clinics and Practice (2018-08-01)

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

Yazar: 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
Yayımlandı Frontiers in Immunology (2019-08-01)

Septic arthritis of the temporomandibular joint in an infant

Yazar: Raymond Chuk, John Arvier, Barbara Laing, David Coman
Yayımlandı Clinics and Practice (2015-07-01)

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

Yazar: Hannah C. Leeson, Denise Goh, David Coman, Ernst J. Wolvetang
Yayımlandı 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

Yazar: Anand Ramineni BSc, MBBS, GSCpMed, David Coman MBBS, MPhil, FRACP
Yayımlandı Child Neurology Open (2016-08-01)

Pediatric Hereditary Neuralgic Amyotrophy

Yazar: Raymond Chuk MBBS, Megan Sheppard MBBS, Geoff Wallace MBBS, FRACP, David Coman MBBS, MPhil, FRACP
Yayımlandı Child Neurology Open (2016-09-01)

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

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

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

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

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

Yazar: 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
Yayımlandı JIMD Reports (2020-01-01)

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

Yazar: 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
Yayımlandı Genes (2021-04-01)

Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia

Yazar: 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
Yayımlandı iScience (2021-01-01)

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia

Yazar: 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
Yayımlandı Child Neurology Open (2017-11-01)