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Plos One
|
September 13, 2018
The impact of marine recreational fishing on key fish stocks in European waters
Zachary Radford, Kieran Hyder, Lucía Zarauz, et al.
Epilepsia
|
August 19, 2022
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy
Vincent Strehlow, Claudine Rieubland, Sabina Gallati, et al.
Frontiers in Oncology
|
April 1, 2026
Case Report: A combination of <i>CHEK2</i> and high polygenic risk score leads to early-onset male breast cancer
Kamil Tamindarov, Marika Frank, Sonja Wegscheider, et al.
Orphanet Journal of Rare Diseases
|
January 30, 2025
KaRhab: an international online registry for cardiac rhabdomyomas
Vera-Maria Herrmann, Maria Arelin, Caroline G Bergner, et al.
Clinical Genetics
|
October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
Bernt Popp, Melanie Brugger, Sibylle Poschmann, et al.
American Journal of Medical Genetics. Part A
|
November 25, 2022
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder
Franziska Roessler, Anita E Beck, Ball Susie, et al.
Annals of Neurology
|
April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
Maria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
Brain : a Journal of Neurology
|
December 14, 2018
GRIN2A-related disorders: genotype and functional consequence predict phenotype
Vincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 11, 2021
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
Thomas A Ravenscroft, Jennifer B Phillips, Elizabeth Fieg, et al.
Molecular Psychiatry
|
January 7, 2026
Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy
Johannes R Lemke, Andrea Eoli, Ilona Krey, et al.
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of 4
Search research articles
Search
Showing results (11-20 of 31) with videos related to
Sort By:
Page
of 4
Plos One
|
September 13, 2018
The impact of marine recreational fishing on key fish stocks in European waters
Zachary Radford, Kieran Hyder, Lucía Zarauz, et al.
Epilepsia
|
August 19, 2022
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy
Vincent Strehlow, Claudine Rieubland, Sabina Gallati, et al.
Frontiers in Oncology
|
April 1, 2026
Case Report: A combination of <i>CHEK2</i> and high polygenic risk score leads to early-onset male breast cancer
Kamil Tamindarov, Marika Frank, Sonja Wegscheider, et al.
Orphanet Journal of Rare Diseases
|
January 30, 2025
KaRhab: an international online registry for cardiac rhabdomyomas
Vera-Maria Herrmann, Maria Arelin, Caroline G Bergner, et al.
Clinical Genetics
|
October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
Bernt Popp, Melanie Brugger, Sibylle Poschmann, et al.
American Journal of Medical Genetics. Part A
|
November 25, 2022
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder
Franziska Roessler, Anita E Beck, Ball Susie, et al.
Annals of Neurology
|
April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
Maria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
Brain : a Journal of Neurology
|
December 14, 2018
GRIN2A-related disorders: genotype and functional consequence predict phenotype
Vincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 11, 2021
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
Thomas A Ravenscroft, Jennifer B Phillips, Elizabeth Fieg, et al.
Molecular Psychiatry
|
January 7, 2026
Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy
Johannes R Lemke, Andrea Eoli, Ilona Krey, et al.
Page
of 4