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Showing results (881-890 of 902) with videos related to

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The European Physical Journal. A, Hadrons and Nuclei|March 10, 2025
Fine structure in the <math></math>  decay of <math></math> Hg and <math></math> AuA Špaček, A Herzáň, M Sedlák, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionLisa Lenaerts, Sara Reynhout, Iris Verbinnen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Human Mutation|September 17, 2013
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformationNicole Revencu, Laurence M Boon, Antonella Mendola, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Physical Review Letters|December 1, 2023
Deformation versus Sphericity in the Ground States of the Lightest Gold IsotopesJ G Cubiss, A N Andreyev, A E Barzakh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.
Nature Neuroscience|March 15, 2016
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disordersTarjinder Singh, Mitja I Kurki, David Curtis, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
Pageof 91

Showing results (881-890 of 902) with videos related to

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Pageof 91
The European Physical Journal. A, Hadrons and Nuclei|March 10, 2025
Fine structure in the <math></math>  decay of <math></math> Hg and <math></math> AuA Špaček, A Herzáň, M Sedlák, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionLisa Lenaerts, Sara Reynhout, Iris Verbinnen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Human Mutation|September 17, 2013
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformationNicole Revencu, Laurence M Boon, Antonella Mendola, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Physical Review Letters|December 1, 2023
Deformation versus Sphericity in the Ground States of the Lightest Gold IsotopesJ G Cubiss, A N Andreyev, A E Barzakh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.
Nature Neuroscience|March 15, 2016
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disordersTarjinder Singh, Mitja I Kurki, David Curtis, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
Pageof 91