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Frontiers in Pediatrics
|
July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
Romy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
François Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
European Journal of Human Genetics : EJHG
|
January 16, 2014
Myhre and LAPS syndromes: clinical and molecular review of 32 patients
Caroline Michot, Carine Le Goff, Clémentine Mahaut, et al.
Neurology
|
December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
Danique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Nature Genetics
|
April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Corinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
European Journal of Human Genetics : EJHG
|
January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Meena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.
The Journal of Clinical Investigation
|
December 4, 2019
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, et al.
Plos One
|
May 29, 2019
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations
Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, et al.
Mayo Clinic Proceedings. Innovations, Quality & Outcomes
|
July 11, 2022
High-Frequency 10-kHz Spinal Cord Stimulation Improves Health-Related Quality of Life in Patients With Refractory Painful Diabetic Neuropathy: 12-Month Results From a Randomized Controlled Trial
Erika A Petersen, Thomas G Stauss, James A Scowcroft, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
May 24, 2025
Ubiquitin-proteasome system in the different stages of dominantly inherited Alzheimer's disease
Haiyan Liu, Quoc Bui, Jason Hassenstab, et al.
Page
of 73
Search research articles
Search
Showing results (671-680 of 728) with videos related to
Sort By:
Page
of 73
Frontiers in Pediatrics
|
July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
Romy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
François Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
European Journal of Human Genetics : EJHG
|
January 16, 2014
Myhre and LAPS syndromes: clinical and molecular review of 32 patients
Caroline Michot, Carine Le Goff, Clémentine Mahaut, et al.
Neurology
|
December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
Danique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Nature Genetics
|
April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Corinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
European Journal of Human Genetics : EJHG
|
January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Meena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.
The Journal of Clinical Investigation
|
December 4, 2019
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, et al.
Plos One
|
May 29, 2019
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations
Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, et al.
Mayo Clinic Proceedings. Innovations, Quality & Outcomes
|
July 11, 2022
High-Frequency 10-kHz Spinal Cord Stimulation Improves Health-Related Quality of Life in Patients With Refractory Painful Diabetic Neuropathy: 12-Month Results From a Randomized Controlled Trial
Erika A Petersen, Thomas G Stauss, James A Scowcroft, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
May 24, 2025
Ubiquitin-proteasome system in the different stages of dominantly inherited Alzheimer's disease
Haiyan Liu, Quoc Bui, Jason Hassenstab, et al.
Page
of 73