Results 1 to 10 of about 1,611,662 (382)

Genetics of human hydrocephalus [PDF]

Journal of Neurology, 2006
Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation.
A Borit, A Chahlavi, A Mori, A Taraszewska, AE Chudley, AJ Jimenez, AJ Raimondi, AN Tullio, AR Cohen, AS Teebi, AW Park, BE Davy, BK Burton, BK Burton, BK Owler, C Adams, C Bay, C Descipio, C Ramos, C Stoll, C Vincent, C Wagner, CC Zygourakis, CE Draper, CE Johanson, CH Yoon, CH Yoon, CW Chow, D Kondziella, Daniele Rigamonti, DF Kohn, DL Krebs, E Fernell, E Galbreath, F Clark, F Clark, F Clark, F Haverkamp, F Mashayekhi, F Mori, H Fukumitsu, H Gruneberg, H Hamada, H Sakata-Haga, HC Jones, HC Jones, HC Jones, HC Jones, HC Jones, HC Jones, HC Jones, HC Jones, HK Hong, HK Hong, HM Aolad, HM Aolad, HW Leipold, I Ibanez-Tallon, I Tsunoda, J Halliday, J Jansen, J Nitta, J Zechel, J Zlotogora, J Zlotogora, J Zlotogora, JA Miyan, JE Bruni, JM Robertson, JR Price, Jun Zhang, K Game, K Mori, K Mori, K Mori, K Zimmermann, KC Somera, KC Somera, L Crews, M Castro-Gago, M Castro-Gago, M Castro-Gago, M Czosnyka, M Dickie, M Jouet, M Kuwamura, M Ohmiya, M Silson, M. Czosnyka, MD Partington, Michael A. Williams, ML Robinson, MW Shannon, N Okamoto, N Ulfig, P Barros-Nunes, P Fernandez-Llebrez, PH Schurr, PJ Blackshear, PJ Willems, R Abdul-Karim, RE Tipton, RF Schinazi, RI Kuzniecky, RJ Edwards, RK Portenoy, RM Chalmers, RO Weller, S Abdelilah, S Doublier, S Katsuragi, S Oi, S Sasaki, T Kume, T Takano, T Takano, TH Chae, U Moog, VL Sheen, W Driever, W Stahl, WI Verhagen, X Cai, X Li, Y Makiyama   +124 more
core   +5 more sources

Biochemistry of Human Genetics [PDF]

Archives of Neurology, 1960
Designated with pride as one of the sponsor's anniversary publications commemorating 10 years of effective promotion of "international cooperation in medical and chemical research," this volume containing the proceedings of a well-organized symposium on the biochemistry of gene action is another feather in the cap of the Ciba Foundation.
P. H. A. Sneath
openalex   +4 more sources

HUMAN GENETICS [PDF]

Annual Review of Genetics, 1967
H. Eldon Sutton
openalex   +3 more sources

Genotoxicity of 22% Carbamide Peroxide Bleaching Agent on Oral Cells using the Micronucleus Technique [PDF]

Journal of Clinical and Diagnostic Research, 2020
Introduction: Several bleaching products and methods were introduced over the last years. However, the consequences of 22% carbamide peroxide on the genetic material of oral mucosal cells is uncertain.
Laís Vargas Bonacina, Carolina do Amaral Vargas, Julia Vanini, Júlia Zandoná, Rodrigo Rohenkohl Silvlva, Carmen Silvlvia Busin, Paula Benetti, João Paulo De Carli   +7 more
doaj   +1 more source

A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes

Frontiers in Cardiovascular Medicine, 2021
Congenital heart disease (CHD) is the most common type of birth defect, affecting ~1% of all live births. Malformations of the cardiac outflow tract (OFT) account for ~30% of all CHD and include a range of CHDs from bicuspid aortic valve (BAV) to ...
Adrianna Matos-Nieves, Sathiyanarayanan Manivannan, Uddalak Majumdar, Kim L. McBride, Kim L. McBride, Peter White, Peter White, Vidu Garg, Vidu Garg, Vidu Garg   +9 more
doaj   +1 more source

Harnessing genomics and translational research to improve health in Africa: a report of the 13th African Society of Human Genetics meeting in Dar es Salaam, Tanzania [PDF]

Pan Afr Med J
The thirteenth conference of the African Society of Human Genetics with the theme "harnessing genomics and translational research to improve health in Africa" was held in Dar es Salaam, Tanzania, in August 2021, using a hybrid in-person and virtual model
Nkya S, David A, Alimohamed M, Samson K, Modern G, Ramsay M, Makani J, Williams S, Nembaware V, Wonkam A.   +9 more
europepmc   +2 more sources

The Opportunities and Challenges of Integrating Population Histories Into Genetic Studies for Diverse Populations: A Motivating Example From Native Hawaiians

Frontiers in Genetics, 2021
There is a well-recognized need to include diverse populations in genetic studies, but several obstacles continue to be prohibitive, including (but are not limited to) the difficulty of recruiting individuals from diverse populations in large numbers and
Charleston W. K. Chiang, Charleston W. K. Chiang   +1 more
doaj   +1 more source

Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages

Frontiers in Genetics, 2022
Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and ...
Nina Pereza, Nina Pereza, Rifet Terzić, Dijana Plaseska-Karanfilska, Olivera Miljanović, Olivera Miljanović, Ivana Novaković, Željka Poslon, Željka Poslon, Saša Ostojić, Saša Ostojić, Borut Peterlin   +11 more
doaj   +1 more source

Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs

eLife, 2023
Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are enriched in 'mutation intolerant' genes. We show how such observations can be interpreted in light of a model of mutation-selection balance and use the model to relate ...
Ipsita Agarwal, Zachary L Fuller, Simon R Myers, Molly Przeworski   +3 more
doaj   +1 more source

Rewriting Human History and Empowering Indigenous Communities with Genome Editing Tools. [PDF]

, 2020
Appropriate empirical-based evidence and detailed theoretical considerations should be used for evolutionary explanations of phenotypic variation observed in the field of human population genetics (especially Indigenous populations). Investigators within
Fox, Keolu, Komor, Alexis C, Rallapalli, Kartik Lakshmi   +2 more
core   +2 more sources