Results 51 to 60 of about 22,161 (138)

Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia [PDF]

The Pan African Medical Journal, 2011
BACKGROUND: Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern ...
Waleed Hamad Al Bu Ali, Magdy Hassan Balaha, Mohammed Saleh Al Moghannum, Ibrahim Hashim   +3 more
doaj  

Thought of distinguishing pathogenic gene mutation from no harm mutation in clinical practice

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
DOI: 10.3969/j.issn.1672-6731.2017.08 ...
Cheng ZHANG
doaj  

Diagnostic yield of long-read sequencing for rare diseases: a systematic review

Frontiers in Genetics
BackgroundNearly half of patients with rare genetic disorders remain undiagnosed, which may in part be due to limitations of current short-read sequencing (SRS) approaches in detecting complex genomic alterations. Long-read whole genome sequencing (lrWGS)
Amal Abdulsalam Ibrahim, Khalid A. Fakhro, Khalid A. Fakhro, Khalid A. Fakhro, Atiyeh M. Abdallah   +4 more
doaj   +1 more source

Review and perspective of molecular genetics and molecular diagnosis in neurogenetic disorders

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
DOI：10.3969/j.issn.1672⁃6731.2012.03 ...
Bei⁃sha TANG
doaj  

Tissue microarrays for testing basal biomarkers in familial breast cancer cases

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: The proteins p63, p-cadherin and CK5 are consistently expressed by the basal and myoepithelial cells of the breast, although their expression in sporadic and familial breast cancer cases has yet to be fully defined.
Rozany Mucha Dufloth, Irina Matos, Fernando Schmitt, Luiz Carlos Zeferino   +3 more
doaj   +1 more source

A Multidisciplinary Approach to a Seven Year-Old Patient with Incontinentia Pigmenti: A Case Report and Five-Year Follow Up

Frontiers in Dentistry, 2016
Incontinentia pigmenti is a rare inherited disorder involving abnormalities of the skin, hair, eyes, musculoskeletal system, central nervous system, and the teeth. Dental abnormalities are the most common manifestations of this disorder.
Rezvan Rafatjou, Fariborz Vafaee, Hanif Allahbakhshi, Porousha Mahjoub   +3 more
doaj  

Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study

Frontiers in Oral Health
IntroductionThis study aimed to analyze the knowledge and attitudes of Brazilian Oral Medicine and Pathology (OM/OP) specialists about genetic diseases.MethodsA cross-sectional and descriptive study was conducted with Brazilian OM/OP specialists, using a
Samuel Trezena, Samuel Trezena, Daniella Reis Barbosa Martelli, Paulo Rogério Ferreti Bonan, Edgard Graner, Lívia Maria Ferreira Sobrinho, Faizan Alawi, Ricardo D. Coletta, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior   +10 more
doaj   +1 more source

Characteristics of motor function in children with hereditary neuromuscular disease

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To analyze the characteristics of motor function in children with different types of hereditary neuromuscular disease (HNMD). Methods A total of 61 children with HNMD admitted to Peking University First Hospital from January 2018 to January ...
LI Wen-zhu, HUANG Zhen, FAN Yan-bin, XIONG Hui   +3 more
doaj   +1 more source

Human medicines European public assessment report (EPAR): Respreeza, alpha1-proteinase inhibitor (human), Genetic Diseases, Inborn,Lung Diseases, Date of authorisation: 20/08/2015, Revision: 6, Status: Authorised [PDF]

Case Medical Research, 2019
openaire   +1 more source

Toward a monogenic architecture of human infections: From 1996 to 2026. [PDF]

J Hum Immun
Casanova JL.
europepmc   +1 more source