Results 201 to 210 of about 4,953,128 (334)

Medical genetics: advances in brief: Complete characterization of a large marker chromosome by reverse and forward chromosome painting [PDF]

, 1993
J. C K Barber
openalex   +1 more source

Genetics in the Medical Curriculum

Academic Medicine, 1946
J C Haley, G Gordan Robertson
openaire   +4 more sources

Faculty of 1000 evaluation for Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

, 2018
C. Has
semanticscholar   +1 more source

Adenosine‐to‐inosine editing of miR‐200b‐3p is associated with the progression of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
A‐to‐I editing of miRNAs, particularly miR‐200b‐3p, contributes to HGSOC progression by enhancing cancer cell proliferation, migration and 3D growth. The edited form is linked to poorer patient survival and the identification of novel molecular targets.
Magdalena Niemira, Anna Skwarska, Karolina Chwialkowska, Agnieszka Ostrowska, Gabriela Sokolowska, Anna Zeller, Anna Erol, Andrzej Eljaszewicz, Bartosz Hanczaruk, Anna Michalska‐Falkowska, Agnieszka Tarasik, Joanna Reszec‐Gielazyn, Pawel Knapp, Marcin Moniuszko, Adam Kretowski   +14 more
wiley   +1 more source

Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Aggarwal VS, Guha S, Lebo MS, Retterer K, Scharfe C, Bean LJH, ACMG Laboratory Quality Assurance Committee8∗documents@acmg.net.   +6 more
europepmc   +1 more source

Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C. [PDF]

Am J Med Genet C Semin Med Genet, 2022
Connaughton DM, Hildebrandt F.
europepmc   +1 more source

Medical genetics: advances in brief: Mitochondrial encephalopathies with the mutation of the mitochondrial tRNALeu(UUR) [PDF]

, 1992
David Fitzpatrick
openalex   +1 more source

Medical genetics in Israel. [PDF]

Journal of Medical Genetics, 1989
B Bonne-Tamir, R Voss, G Barkai, M B Katznelson, R. M. Goodman, Y Shiloh, A Adam, Gideon Bach, B Goldman, B Padeh   +9 more
openaire   +3 more sources

YAP1::TFE3 mediates endothelial‐to‐mesenchymal plasticity in epithelioid hemangioendothelioma

Molecular Oncology, EarlyView.
The YAP1::TFE3 fusion protein drives endothelial‐to‐mesenchymal transition (EndMT) plasticity, resulting in the loss of endothelial characteristics and gain of mesenchymal‐like properties, including resistance to anoikis, increased migratory capacity, and loss of contact growth inhibition in endothelial cells.
Ant Murphy, Samuel Hartzler, Paula A. Vargas Carranza, Shyaman Jayasundara, Madison E. Yates, Nimod D. Janson, Bozhi Liu, Annaleigh Benton, Majid Kazemian, Jason A. Hanna   +9 more
wiley   +1 more source

Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Gangji RN, Ali QA, Dhamija R, Corado AM, Kharbanda S, ACMG Therapeutics Committee6∗documents@acmg.net.   +5 more
europepmc   +1 more source