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European Journal of Human Genetics : EJHG
|
December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Sandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Mayo Clinic Proceedings
|
January 23, 2026
Establishing an Alzheimer Disease Therapeutics Clinic: Experience From a Year of Evaluations
Bryan J Neth, Jonathan Graff-Radford, Petrice M Cogswell, et al.
Forensic Science International. Genetics
|
January 22, 2019
STRmix™ collaborative exercise on DNA mixture interpretation
Jo-Anne Bright, Kevin Cheng, Zane Kerr, et al.
Nature Communications
|
January 8, 2024
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
Andrea Accogli, Saurabh Shakya, Taewoo Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Holly K Harris, Tojo Nakayama, Jenny Lai, et al.
Mayo Clinic Proceedings
|
May 7, 2021
A Framework for Outpatient Infusion of Antispike Monoclonal Antibodies to High-Risk Patients with Mild-to-Moderate Coronavirus Disease-19: The Mayo Clinic Model
Raymund R Razonable, Nicole C E Aloia, Ryan J Anderson, et al.
The Journal of Clinical Investigation
|
March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Charlotte Gehin, Museer A Lone, Winston Lee, et al.
Science Advances
|
December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
Laura Bryant, Dong Li, Samuel G Cox, et al.
Genome Biology
|
November 21, 2019
The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens
Naihui Zhou, Yuxiang Jiang, Timothy R Bergquist, et al.
Nucleic Acids Research
|
December 10, 2024
MIBiG 4.0: advancing biosynthetic gene cluster curation through global collaboration
Mitja M Zdouc, Kai Blin, Nico L L Louwen, et al.
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Showing results (971-980 of 982) with videos related to
Sort By:
Page
of 99
European Journal of Human Genetics : EJHG
|
December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Sandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Mayo Clinic Proceedings
|
January 23, 2026
Establishing an Alzheimer Disease Therapeutics Clinic: Experience From a Year of Evaluations
Bryan J Neth, Jonathan Graff-Radford, Petrice M Cogswell, et al.
Forensic Science International. Genetics
|
January 22, 2019
STRmix™ collaborative exercise on DNA mixture interpretation
Jo-Anne Bright, Kevin Cheng, Zane Kerr, et al.
Nature Communications
|
January 8, 2024
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
Andrea Accogli, Saurabh Shakya, Taewoo Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Holly K Harris, Tojo Nakayama, Jenny Lai, et al.
Mayo Clinic Proceedings
|
May 7, 2021
A Framework for Outpatient Infusion of Antispike Monoclonal Antibodies to High-Risk Patients with Mild-to-Moderate Coronavirus Disease-19: The Mayo Clinic Model
Raymund R Razonable, Nicole C E Aloia, Ryan J Anderson, et al.
The Journal of Clinical Investigation
|
March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Charlotte Gehin, Museer A Lone, Winston Lee, et al.
Science Advances
|
December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
Laura Bryant, Dong Li, Samuel G Cox, et al.
Genome Biology
|
November 21, 2019
The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens
Naihui Zhou, Yuxiang Jiang, Timothy R Bergquist, et al.
Nucleic Acids Research
|
December 10, 2024
MIBiG 4.0: advancing biosynthetic gene cluster curation through global collaboration
Mitja M Zdouc, Kai Blin, Nico L L Louwen, et al.
Page
of 99