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American Journal of Human Genetics
|
November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome
Jennifer 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 Paper
Divya 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 sequencing
Amali 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 Cancer
Bora 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 children
Gemma 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 disease
Andrew 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 <i>FOXP2</i>
Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
Neurology
|
April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disorders
Roberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
Frontiers in Genetics
|
July 11, 2022
Expanding the <i>HPSE2</i> Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder
Glenda M Beaman, Filipa M Lopes, Aybike Hofmann, et al.
Kidney International
|
July 8, 2020
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
Vinh T Huynh, Marie-Pierre Audrézet, John A Sayer, et al.
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of 32
Search research articles
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Showing results (271-280 of 318) with videos related to
Sort By:
Page
of 32
American Journal of Human Genetics
|
November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome
Jennifer 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 Paper
Divya 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 sequencing
Amali 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 Cancer
Bora 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 children
Gemma 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 disease
Andrew 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 <i>FOXP2</i>
Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
Neurology
|
April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disorders
Roberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
Frontiers in Genetics
|
July 11, 2022
Expanding the <i>HPSE2</i> Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder
Glenda M Beaman, Filipa M Lopes, Aybike Hofmann, et al.
Kidney International
|
July 8, 2020
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
Vinh T Huynh, Marie-Pierre Audrézet, John A Sayer, et al.
Page
of 32