Results 201 to 210 of about 379,249 (335)

Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility. [PDF]

Chromosome Res
Osundiji MA, Bello AO, Hand JL.
europepmc   +1 more source

Additional file 1: of Disentangling the roles of maternal and paternal age on birth prevalence of Down syndrome and other chromosomal disorders using a Bayesian modeling approach

, 2019
James Thompson
openalex   +1 more source

Comparative Single‐Cell Transcriptomic Atlas Reveals the Genetic Regulation of Reproductive Traits

Advanced Science, EarlyView.
A cross‐species single‐cell transcriptomic atlas of reproductive and central nervous system tissues from sheep and humans reveals conserved cellular programs and regulatory networks that regulated fertility. Integration with GWAS for sheep lifetime average litter size identifies UNC5–SLIT–BMP signaling as a core pathway coordinating neuroendocrine ...
Bingru Zhao, Hanpeng Luo, Dailu Guan, Xuefeng Fu, Feng Wang, Guoming Zhang, Shanglai Li, Hua Yang, Yanli Zhang   +8 more
wiley   +1 more source

Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay. [PDF]

Mol Cytogenet
Qin J, Zeng Y, Qin S, Wang W, Huang J, Wei X, Chang R, Zheng X, Li Y, Yuan D, Wei X.   +10 more
europepmc   +1 more source

Additional file 12: of Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders

, 2016
Tao Yu, Hui Gao, Benjamin Ackerman, Wei Guo, David Saffen, Yin Yao Shugart   +5 more
openalex   +1 more source

Pleiotropic Effects of a Chromosome 3 Locus on Speech-Sound Disorder and Reading [PDF]

, 2004
Catherine M. Stein, James H. Schick, H. Gerry Taylor, Lawrence D. Shriberg, Christopher J. Millard, Amy Kundtz-Kluge, Karlie Russo, Nori Minich, Amy J. Hansen, Lisa Freebairn, Robert C. Elston, Barbara Lewis, Sudha K. Iyengar   +12 more
openalex   +1 more source

Biomechanics‐Driven 3D Architecture Inference from Histology Using CellSqueeze3D

Advanced Science, EarlyView.
CellSqueeze3D reconstructs 3D cellular architecture from standard 2D histology images using biomechanical constraints and optimization. Validated on clinical datasets, it enables accurate tissue phenotyping, predicts gene mutations, and reveals significant correlations between nuclear‐cytoplasmic ratio entropy and tumor progression.
Yan Kong, Hui Lu
wiley   +1 more source

MCV/Q, Medical College of Virginia Quarterly, Vol. 13 No. 4 [PDF]

, 1977

core   +1 more source

Prenatal Diagnosis of Paternal Uniparental Isodisomy 14 Arising From the Transfer of a Mosaic Monosomy 14 Embryo. [PDF]

Cureus
Minick J, Lende M.
europepmc   +1 more source

Nonrandom chromosomal abnormalities in hematologic disorders of man.

, 1975
Janet D. Rowley
openalex   +2 more sources