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American Journal of Human Genetics
|
August 15, 2023
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
Paulien Terhal, Anton J Venhuizen, Davor Lessel, et al.
Human Molecular Genetics
|
August 1, 2019
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice
Alistair T Pagnamenta, Pierre Heemeryck, Hilary C Martin, et al.
Environmental Health Perspectives
|
April 18, 2018
Maternal Smoking during Pregnancy and Early Childhood and Development of Asthma and Rhinoconjunctivitis - a MeDALL Project
Jesse D Thacher, Ulrike Gehring, Olena Gruzieva, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 17, 2025
RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria
Teresa Kleinz, Francesco Cavallieri, Max Borsche, et al.
Brain : a Journal of Neurology
|
June 2, 2025
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway
Yoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, et al.
Research Square
|
October 7, 2024
The <i>LRRK2</i> p.L1795F variant causes Parkinson's disease in the European population
Lara M Lange, Kristin Levine, Susan H Fox, et al.
Biorxiv : the Preprint Server for Biology
|
April 1, 2025
PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson's disease
Claire Y Chiang, Neringa Pratuseviciute, Yu-En Lin, et al.
Brain : a Journal of Neurology
|
January 2, 2026
The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum
Johanna R Roller, Ashraf Yahia, Giovanni Stevanin, et al.
The Journal of Clinical Investigation
|
August 25, 2022
Immune dysregulation caused by homozygous mutations in CBLB
Erin Janssen, Zachary Peters, Mohammed F Alosaimi, et al.
European Journal of Human Genetics : EJHG
|
February 5, 2015
Next-generation sequencing in X-linked intellectual disability
Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
Page
of 59
Search research articles
Search
Showing results (471-480 of 585) with videos related to
Sort By:
Page
of 59
American Journal of Human Genetics
|
August 15, 2023
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
Paulien Terhal, Anton J Venhuizen, Davor Lessel, et al.
Human Molecular Genetics
|
August 1, 2019
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice
Alistair T Pagnamenta, Pierre Heemeryck, Hilary C Martin, et al.
Environmental Health Perspectives
|
April 18, 2018
Maternal Smoking during Pregnancy and Early Childhood and Development of Asthma and Rhinoconjunctivitis - a MeDALL Project
Jesse D Thacher, Ulrike Gehring, Olena Gruzieva, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 17, 2025
RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria
Teresa Kleinz, Francesco Cavallieri, Max Borsche, et al.
Brain : a Journal of Neurology
|
June 2, 2025
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway
Yoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, et al.
Research Square
|
October 7, 2024
The <i>LRRK2</i> p.L1795F variant causes Parkinson's disease in the European population
Lara M Lange, Kristin Levine, Susan H Fox, et al.
Biorxiv : the Preprint Server for Biology
|
April 1, 2025
PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson's disease
Claire Y Chiang, Neringa Pratuseviciute, Yu-En Lin, et al.
Brain : a Journal of Neurology
|
January 2, 2026
The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum
Johanna R Roller, Ashraf Yahia, Giovanni Stevanin, et al.
The Journal of Clinical Investigation
|
August 25, 2022
Immune dysregulation caused by homozygous mutations in CBLB
Erin Janssen, Zachary Peters, Mohammed F Alosaimi, et al.
European Journal of Human Genetics : EJHG
|
February 5, 2015
Next-generation sequencing in X-linked intellectual disability
Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
Page
of 59