Results 191 to 200 of about 4,953,128 (334)

Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees. [PDF]

Am J Med Genet A, 2022
Chenbhanich J, Slavotinek A, Tam A.
europepmc   +1 more source

Medical genetics: advances in brief: Antenatal maternal serum screening for Down's syndrome: results of a demonstration project [PDF]

, 1992
A. R. Norman
openalex   +1 more source

Characterizing the salivary RNA landscape to identify potential diagnostic, prognostic, and follow‐up biomarkers for breast cancer

Molecular Oncology, EarlyView.
This study explores salivary RNA for breast cancer (BC) diagnosis, prognosis, and follow‐up. High‐throughput RNA sequencing identified distinct salivary RNA signatures, including novel transcripts, that differentiate BC from healthy controls, characterize histological and molecular subtypes, and indicate lymph node involvement.
Nicholas Rajan, Irina Primac, Emre Etlioglu, Laurens Debruyne, Ann Janssen, Magy Sallam, Kevin Tabury, Roel Quintens, Wiebren Tjalma, Mohammed Abderrafi Benotmane   +9 more
wiley   +1 more source

Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Baker EK, Derry A, Cohen JL, Chang IJ, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Recontacting in medical genetics: the implications of a broadening knowledge base. [PDF]

Hum Genet, 2022
Doheny S.
europepmc   +1 more source

Medical genetics: advances in brief: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci [PDF]

, 1994
J. C K Barber
openalex   +1 more source

Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology

Molecular Oncology, EarlyView.
Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts, Senada Koljenović, Elise Daems, Karolien De Wael, Marc Peeters, Léon C. van Kempen, Greetje Vanhoutte, Karen Zwaenepoel, Timon Vandamme   +8 more
wiley   +1 more source

Developing medical genetics in a low-income country: Unveiling the journey of the Pakistani Society of Medical Genetics and Genomics (PSMG). [PDF]

Genet Med Open
Furqan A, Ahmed SA, Naeem R, Ashfaq M.
europepmc   +1 more source

Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open, 2023
Penon-Portmann M, Poskanzer SA, Ganesh J, Chang I, ACMG Therapeutics Committee4∗documents@acmg.net.   +4 more
europepmc   +1 more source

Animal mutants and medical genetics: hereditary disorders of mouse erythropoiesis as experimental tools

, 1972
R. J. Cole
openalex   +1 more source