Results 111 to 120 of about 14,863 (260)

Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population‐based study

Birth Defects Research, Volume 114, Issue 20, Page 1427-1433, December 1, 2022., 2022
Abstract Background Amelia and phocomelia represent severe limb reduction defects. Specific epidemiologic data on these defects are scarce. We conducted a descriptive analysis of prevalence data in Finland during 1993–2008 to clarify the epidemiology nationwide in a population‐based register study.
Niklas Pakkasjärvi, Johanna Syvänen, Markus Wiro, Eeva Koskimies‐Virta   +3 more
wiley   +1 more source

ADHESIONS OF THE SIGMOID ASSOCIATED WITH CONGENITAL ABNORMALITY OF THE MESENTERY CAUSING CONSTIPATION. [PDF]

, 1919
J. P. Lockhart-Mummery, Drury Pennington
openalex   +1 more source

Analysis of serum metabolism in premature infants before and after feeding using GC–MS and the relationship with necrotizing enterocolitis

Biomedical Chromatography, Volume 37, Issue 1, January 2023., 2023
Abstract Preterm birth and enteral feeding are two main factors leading to necrotizing enterocolitis (NEC). The metabolomics of preterm infants before and after feeding can provide a basis for the prediction of NEC. Using the method of cross‐sectional study, the mode was established with the serum samples of 19 premature infants at birth and after ...
Fusheng Wang, Guanghuan Wang, Weizhong Li, Chenbin Xu, Zailin Zeng, Yongcui Zhou   +5 more
wiley   +1 more source

Congenital malformations in embryos of female mice exposed to alcohol and nicotinamide [PDF]

Einstein (São Paulo), 2009
Objective: To compare the incidence of congenital malformations among the offspring of female mice exposed to alcohol or alcohol plus nicotinamide. Methods: Three groups of pregnant C57BL/6J mice were studied; G1 received alcohol (5 g/kg) in saline ...
Natasha Soares Simões dos Santos, Marjourie Dragoni de Arruda Biscaro, Beatriz Christina Lorenzetti Santos, Suzana Guimarães Moraes   +3 more
doaj  

Case of Congenital Abnormality of the Right Ureter [PDF]

, 1925
A. Clifford Morson
openalex   +1 more source

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger, Bryn D. Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta   +4 more
wiley   +1 more source

A Case of Congenital Abnormality of the Uterus [PDF]

, 1940
A. Briant Evans
openalex   +1 more source

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder (MRXSHG)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Houge type of X‐linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting ...
Mohammad‐Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben‐Mahmoud, Vijay Gupta, Lara G. Stühn, Gaetan Lesca, Nicolas Chatron, Konrad Platzer, Patrick Edery, Hossein Sadeghi, Bertrand Isidor, Benjamin Cogné, Heidi L. Schulz, Ilona Krauspe‐Stübecke, Radhakrishnan Periyasamy, Sheela Nampoothiri, Reza Mirfakhraie, Sahar Alijanpour, Steffen Syrbe, Ulrich Pfeifer, Stephanie Spranger, Kathrin Grundmann‐Hauser, Tobias B. Haack, Maria T. Papadopoulou, Tayrine da Silva Gonçalves, Eleni Panagiotakaki, Alexis Arzimanoglou, Seyed Hassan Tonekaboni, Massimiliano Rossi, G. Christoph Korenke, Yves Lacassie, Mi‐Hyeon Jang, Lawrence C. Layman, Mohammad Miryounesi, Hyung‐Goo Kim   +34 more
wiley   +1 more source

Occult intraspinal abnormalities and congenital scoliosis

Journal of Research in Medical Sciences, 2007
<font face="TimesNewRoman,Bold" size="1"><p align="left"><strong>BACKGROUND: </strong><font face="TimesNewRoman" size="2">Congenital scoliosis occurs because of either the failure of formation or the failure of segmentation ...
Mohammad Ali Erfani, Mohammad Saleh Ganjavian, Ebrahim Ameri, Hamid Namazi, Saeid Solooki   +4 more
doaj  

Three Cases of Chronic Pyuria with Congenital Abnormalities [PDF]

, 1929
June Davies
openalex   +1 more source