Results 211 to 220 of about 96,085 (345)

Applications and efficiencies of the first cat 63K DNA array [PDF]

, 2018
Warren, Wesley C.
core   +2 more sources

Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience

Andrology, EarlyView.
Abstract Background Current guidelines indicate that patients with extreme oligozoospermia or azoospermia should be tested for chromosomal imbalances, azoospermia factor (AZF) deletions and/or CFTR variants. For other sperm abnormalities, no genetic diagnostics are recommended.
Manon S. Oud, Nicole de Leeuw, Dominique F. C. M. Smeets, Liliana Ramos, Godfried W. van der Heijden, Raoul G. J. Timmermans, Maartje van de Vorst, Tom Hofste, Marlies J. E. Kempers, Marijn F. Stokman, Kathleen W. M. D'Hauwers, Brigitte H. W. Faas, Dineke Westra   +12 more
wiley   +1 more source

Haplotype mining panel for genetic dissection and breeding in Eucalyptus

The Plant Journal, Volume 113, Issue 1, Page 174-185, January 2023., 2023
SUMMARY To improve our understanding of genetic mechanisms underlying complex traits in plants, a comprehensive analysis of gene variants is required. Eucalyptus is an important forest plantation genus that is highly outbred. Trait dissection and molecular breeding in eucalypts currently relies on biallelic single‐nucleotide polymorphism (SNP) markers.
Julia Candotti, Nanette Christie, Raphael Ployet, Marja M. Mostert‐O'Neill, S. Melissa Reynolds, Leandro Gomide Neves, Sanushka Naidoo, Eshchar Mizrachi, Tuan A. Duong, Alexander A. Myburg   +9 more
wiley   +1 more source

Mendelian Inheritance in Man and Its Online Version, OMIM

, 2007
Victor A. McKusick
openalex   +1 more source

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders

Acta Paediatrica, EarlyView.
ABSTRACTAimType II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1.
Shumin Zhan, Qin He, Jinna Yuan, Xiaoqin Xu, Ke Huang, Guanping Dong, Junfen Fu, Dingwen Wu, Wei Wu   +8 more
wiley   +1 more source

McKusick's Online Mendelian Inheritance in Man (OMIM(R))

, 2008
Joanna Amberger, Carol Bocchini, Alan F. Scott, Ada Hamosh   +3 more
openalex   +1 more source

Endocrine Abnormalities and Growth Pattern in Single Large‐Scale Mitochondrial DNA Deletion Syndromes

Acta Paediatrica, EarlyView.
ABSTRACT Aim To assess the prevalence of endocrine disorders and investigate growth patterns in single large‐scale mitochondrial DNA deletion syndromes (SLSMDs). Methods A retrospective study of all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024.
Ayman Daka, Einat Lahav, Omer Bar Yosef, Yoav Bolkier, Yael Levy‐Shraga, Yair Anikster, Elad Jacoby, Noah Gruber   +7 more
wiley   +1 more source

Classical forms of Mendelian inheritance. [PDF]

British Journal of Ophthalmology, 1968
B Jay, R K Blach
openaire   +3 more sources

Small-Molecule Control of Super-Mendelian Inheritance in Gene Drives. [PDF]

Cell Rep, 2020
López Del Amo V, Leger BS, Cox KJ, Gill S, Bishop AL, Scanlon GD, Walker JA, Gantz VM, Choudhary A.   +8 more
europepmc   +1 more source

Phenotypic and Genotypic Analyses of Genetic Skin Disease through the Online Mendelian Inheritance in Man (OMIM) Database

, 2009
Jamison D. Feramisco, Ruslan I. Sadreyev, Mitzi L. Murray, Nick V. Grishin, Hensin Tsao   +4 more
openalex   +1 more source