AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Journal

Identifier:

E190195

ISSN:

1552-4825

Overview

Outputs (37)

A De Novo 0.63 Mb 6q25.1 Deletion Associated with Growth Failure, Congenital Heart Defect, Underdeveloped Cerebellar Vermis, Abnormal Cutaneous Elasticity and Joint Laxity

Academic Article

A novel frameshift mutation of FOXC2gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus

Academic Article

A predictive model for obstructive sleep apnea and Down syndrome

Academic Article

Amniotic band syndrome and limb body wall complex in Europe 1980-2019

Academic Article

Another patient with 12q13 microduplication

Academic Article

Associated anomalies in multi-malformed infants with Cleft lip and Palate: An epidemiological study based on 6 million births in 23 EUROCAT Registries

Academic Article

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

Academic Article

Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex

Academic Article

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

Academic Article

Congenital clubfoot in Europe: A population-based study

Academic Article

Cornelia de Lange syndrome and cancer: An open question

Academic Article

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016

Academic Article

Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018

Academic Article

Cystothionine beta-synthase c.84ins68 gene variant and non-syndromic cleft lip and palate

Academic Article

Descriptive Epidemiology of Cornelia de Lange Syndrome in Europe

Academic Article

Epidemiology of achondroplasia: A population-based study in Europe

Academic Article

Fraser Syndrome: Epidemiological Study in a European Population

Academic Article

Gastroschisis and associated defects: an international study

Academic Article

Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation

Academic Article

How Valid Are the Rates of Down Syndrome Internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research

Academic Article

Intracranial Gene Delivery of LV-NAGLU Vector Corrects Neuropathology in Murine MPS IIIB

Academic Article

Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB.

Academic Article

Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study

Academic Article

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.

Academic Article

New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma

Academic Article

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome

Academic Article

Perrault syndrome: Evidence for progressive nervous system involvement

Academic Article

R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG

Academic Article

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

Academic Article

Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: Familial scimitar anomaly or new syndrome?

Academic Article

Segregation analysis of bronchial hyperresponsiveness in a general population in north Italy.

Academic Article

Sex and congenital malformations: An international perspective

Academic Article

Silver-Russell Syndrome Due to Paternal H19/IGF2 Hypomethylation in a Twin Girl Born After In Vitro Fertilization

Academic Article

Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients.

Academic Article

Trisomy 13 and 18--Prevalence and mortality--A multi-registry population based analysis

Academic Article

Validation of a new multiple osteochondromas classification through Switching Neural Networks

Academic Article

Validation of a predictive model for obstructive sleep apnea in people with Down syndrome

Academic Article

No Results Found

AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Overview

Outputs (37)