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Journal of Autism and Developmental Disorders
|
May 25, 2026
Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes
Irene Mademont-Soler, Maria Camós-Carreras, Aurore Garde, et al.
The Journal of Clinical Investigation
|
September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development
Xiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDER
Wallid Deb, Thomas Besnard, Florence Desprez, et al.
Science (New York, N.Y.)
|
October 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiC
Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2019
PEDIA: prioritization of exome data by image analysis
Tzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.
American Journal of Human Genetics
|
November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
Nature Medicine
|
January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Nature Medicine
|
June 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Neurology
|
September 18, 2020
<i>C9orf72</i>, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts
Beatrice Costa, Claudia Manzoni, Manuel Bernal-Quiros, et al.
American Journal of Human Genetics
|
June 18, 2024
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
Claudia Manzoni, Demis A Kia, Raffaele Ferrari, et al.
Page
of 28
Search research articles
Search
Showing results (261-270 of 274) with videos related to
Sort By:
Page
of 28
Journal of Autism and Developmental Disorders
|
May 25, 2026
Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes
Irene Mademont-Soler, Maria Camós-Carreras, Aurore Garde, et al.
The Journal of Clinical Investigation
|
September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development
Xiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDER
Wallid Deb, Thomas Besnard, Florence Desprez, et al.
Science (New York, N.Y.)
|
October 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiC
Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2019
PEDIA: prioritization of exome data by image analysis
Tzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.
American Journal of Human Genetics
|
November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
Nature Medicine
|
January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Nature Medicine
|
June 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Neurology
|
September 18, 2020
<i>C9orf72</i>, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts
Beatrice Costa, Claudia Manzoni, Manuel Bernal-Quiros, et al.
American Journal of Human Genetics
|
June 18, 2024
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
Claudia Manzoni, Demis A Kia, Raffaele Ferrari, et al.
Page
of 28