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American Journal of Human Genetics
|
March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
Caspar I van der Made, Simone Kersten, Odelia Chorin, et al.
Pediatric Nephrology (Berlin, Germany)
|
January 7, 2022
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights
Ben Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, et al.
Orphanet Journal of Rare Diseases
|
March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Ulrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
Nature Communications
|
June 9, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Katie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
Molecular Psychiatry
|
April 30, 2020
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Joost Kummeling, Diante E Stremmelaar, Nicholas Raun, et al.
Brain : a Journal of Neurology
|
February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
Paulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, 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
|
April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
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of 9
Search research articles
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Showing results (81-90 of 89) with videos related to
Sort By:
Page
of 9
You have reached the last page of results.
This site can display upto 89 results.
American Journal of Human Genetics
|
March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
Caspar I van der Made, Simone Kersten, Odelia Chorin, et al.
Pediatric Nephrology (Berlin, Germany)
|
January 7, 2022
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights
Ben Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, et al.
Orphanet Journal of Rare Diseases
|
March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Ulrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
Nature Communications
|
June 9, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Katie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
Molecular Psychiatry
|
April 30, 2020
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Joost Kummeling, Diante E Stremmelaar, Nicholas Raun, et al.
Brain : a Journal of Neurology
|
February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
Paulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, 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
|
April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Page
of 9