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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 12, 2018
Arterial tortuosity syndrome: 40 new families and literature review
Aude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 12, 2018
Correction: Arterial tortuosity syndrome: 40 new families and literature review
Aude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
European Journal of Human Genetics : EJHG
|
October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Thomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Nature
|
September 2, 2011
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, et al.
Nature Genetics
|
May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, Benjamin Cogne, Amandine Santini, et al.
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Search research articles
Search
Showing results (71-80 of 75) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 75 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 12, 2018
Arterial tortuosity syndrome: 40 new families and literature review
Aude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 12, 2018
Correction: Arterial tortuosity syndrome: 40 new families and literature review
Aude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
European Journal of Human Genetics : EJHG
|
October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Thomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Nature
|
September 2, 2011
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, et al.
Nature Genetics
|
May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, Benjamin Cogne, Amandine Santini, et al.
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of 8