Lista de obras -

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

artículo científico publicado en 2017

40th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2019 Annual Meeting

artículo científico publicado en 2020

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family

artículo científico publicado en 2020

Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes

artículo científico publicado en 2019

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

artículo científico publicado en 2020

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

scientific article published on 25 November 2019

Introduction Special Series: Professor John M. Opitz, Founding Editor of AJMG, Awarded the Order of Merit from the Federal Republic of Germany.

artículo científico publicado en 2017

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018)

artículo científico publicado en 2018

Maternal diabetes-related malformations in Utah: A population study of birth prevalence 2001-2016

artículo científico publicado en 2020

Phenotype analysis of congenital and neurodevelopmental disorders in the next generation sequencing era.

artículo científico publicado en 2017

Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network

artículo científico publicado en 2023

Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature

artículo científico publicado en 2018

Solid tumor screening recommendations in trisomy 18

scientific article published on 13 January 2019

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

artículo científico publicado en 2017

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

artículo científico publicado en 2018

Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.

artículo científico publicado en 2017

Lista de obras de

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

40th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2019 Annual Meeting

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family

Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

Introduction Special Series: Professor John M. Opitz, Founding Editor of AJMG, Awarded the Order of Merit from the Federal Republic of Germany.

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018)

Maternal diabetes-related malformations in Utah: A population study of birth prevalence 2001-2016

Phenotype analysis of congenital and neurodevelopmental disorders in the next generation sequencing era.

Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network

Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature

Solid tumor screening recommendations in trisomy 18

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.