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Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, et al.
American Journal of Human Genetics|November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch SyndromeJennifer A Wambach, Daniel J Wegner, Nivedita Patni, et al.
Clinical Pharmacology and Therapeutics|May 16, 2024
Dose Optimization in Oncology Drug Development: An International Consortium for Innovation and Quality in Pharmaceutical Development White PaperDivya Samineni, Karthik Venkatakrishnan, Ahmed A Othman, et al.
European Journal of Human Genetics : EJHG|January 13, 2021
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencingAmali C Mallawaarachchi, Ben Lundie, Yvonne Hort, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|April 6, 2021
Sapanisertib Plus Exemestane or Fulvestrant in Women with Hormone Receptor-Positive/HER2-Negative Advanced or Metastatic Breast CancerBora Lim, David A Potter, Mohamad A Salkeni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 29, 2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and childrenGemma R Brett, Melissa Martyn, Fiona Lynch, et al.
BMC Nephrology|September 17, 2015
A protocol for the identification and validation of novel genetic causes of kidney diseaseAndrew Mallett, Chirag Patel, Barbara Maier, et al.
Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
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