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David J Amor

Showing results (81-90 of 275) with videos related to

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BMC Pediatrics|August 22, 2024
Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort studyCecilia Pynaker, Jacqui McCoy, Jane Halliday, et al.
European Journal of Medical Genetics|September 24, 2009
4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairmentAlison Yeung, Damien Bruno, Ingrid E Scheffer, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|November 26, 2009
Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, AustraliaTiong Yang Tan, David J Amor, Merilyn Riley, et al.
Pediatric Radiology|November 9, 2002
Prenatal cortical hyperostosis (Caffey disease)Ravi Savarirayan, Valérie Cormier-Daire, David J Amor, et al.
JIMD Reports|November 18, 2020
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literatureJoy Yaplito-Lee, Gautham Pai, Winita Hardikar, et al.
European Journal of Human Genetics : EJHG|December 9, 2020
Speech and language phenotype in Phelan-McDermid (22q13.3) syndromeAmanda Brignell, Conway Gu, Alison Holm, et al.
The Medical Journal of Australia|March 4, 2014
Population-based genetic carrier screening for cystic fibrosis in VictoriaAlison D Archibald, John Massie, Melanie J Smith, et al.
European Journal of Human Genetics : EJHG|March 16, 2021
Correction: Speech and language phenotype in Phelan-McDermid (22q13.3) syndromeAmanda Brignell, Conway Gu, Alison Holm, et al.
American Journal of Medical Genetics|March 14, 2002
Familial digital arthropathy-brachydactylyDavid J Amor, Coral Tudball, R J McKinlay Gardner, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9pDavid Coman, Sonya Bacic, Amber Boys, et al.
Pageof 28

Showing results (81-90 of 275) with videos related to

Sort By:
Pageof 28
BMC Pediatrics|August 22, 2024
Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort studyCecilia Pynaker, Jacqui McCoy, Jane Halliday, et al.
European Journal of Medical Genetics|September 24, 2009
4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairmentAlison Yeung, Damien Bruno, Ingrid E Scheffer, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|November 26, 2009
Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, AustraliaTiong Yang Tan, David J Amor, Merilyn Riley, et al.
Pediatric Radiology|November 9, 2002
Prenatal cortical hyperostosis (Caffey disease)Ravi Savarirayan, Valérie Cormier-Daire, David J Amor, et al.
JIMD Reports|November 18, 2020
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literatureJoy Yaplito-Lee, Gautham Pai, Winita Hardikar, et al.
European Journal of Human Genetics : EJHG|December 9, 2020
Speech and language phenotype in Phelan-McDermid (22q13.3) syndromeAmanda Brignell, Conway Gu, Alison Holm, et al.
The Medical Journal of Australia|March 4, 2014
Population-based genetic carrier screening for cystic fibrosis in VictoriaAlison D Archibald, John Massie, Melanie J Smith, et al.
European Journal of Human Genetics : EJHG|March 16, 2021
Correction: Speech and language phenotype in Phelan-McDermid (22q13.3) syndromeAmanda Brignell, Conway Gu, Alison Holm, et al.
American Journal of Medical Genetics|March 14, 2002
Familial digital arthropathy-brachydactylyDavid J Amor, Coral Tudball, R J McKinlay Gardner, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9pDavid Coman, Sonya Bacic, Amber Boys, et al.
Pageof 28