Results 141 to 150 of about 2,263,137 (364)

Improving the quality of life of parents of patients with congenital abnormalities using psychoeducational interventions: a systematic review. [PDF]

Qual Life Res, 2023
Rodrigues MG, Rodrigues JD, Soares MM, Azevedo LF, Rodrigues PP, Areias JC, Areias ME.   +6 more
europepmc   +1 more source

Case of Congenital Abnormality of the Right Ureter [PDF]

, 1925
A. Clifford Morson
openalex   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Impact of maternal hepatitis B carrier status on congenital abnormalities: a systematic review and meta-analysis. [PDF]

BMJ Open, 2023
Huang S, Wang J, Xiong Y, Liu C, Qi Y, Zou K, Tan J, Sun X.   +7 more
europepmc   +1 more source

Three Cases of Chronic Pyuria with Congenital Abnormalities [PDF]

, 1929
June Davies
openalex   +1 more source

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas, Allison Goetsch Weisman, Valerie Allegretti, Katherine Kim, Roxanne Birriel, Carlos E. Prada   +5 more
wiley   +1 more source

Congenital Malformation Prevalence in Cluj District between 2003-2007 [PDF]

Applied Medical Informatics, 2009
Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations
Ştefan I. ŢIGAN, Tudor MÎRZA, Rodica RADU, Anamaria MOLNAR   +3 more
doaj  

DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities. [PDF]

JCI Insight, 2022
Martinez ME, Pinz I, Preda M, Norton CR, Gridley T, Hernandez A.   +5 more
europepmc   +1 more source

Childhood Obesity with Congenital Abnormalities [PDF]

, 1936
Ernest Fletcher
openalex   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source