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American Journal of Medical Genetics. Part A
|
June 27, 2019
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases
Daphné Lehalle, Roberto Colombo, Michael O'Grady, et al.
Communications Biology
|
July 8, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, et al.
Human Molecular Genetics
|
December 9, 2015
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome
Véronique Chevrier, Ange-Line Bruel, Teunis J P Van Dam, et al.
American Journal of Medical Genetics. Part A
|
June 4, 2016
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
Alice Masurel-Paulet, Amélie Piton, Sophie Chancenotte, et al.
Human Mutation
|
September 27, 2021
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
Jean-Marie Ravel, Natacha Dreumont, Pauline Mosca, et al.
Prenatal Diagnosis
|
March 22, 2019
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
Marguerite Hureaux, Sarah Guterman, Bérénice Hervé, et al.
Oncotarget
|
February 7, 2023
The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles
Martin Chevarin, Diana Alcantara, Juliette Albuisson, et al.
Clinical Genetics
|
July 9, 2021
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement
Sofia Douzgou, Myfanwy Rawson, Eulalia Baselga, et al.
Clinical Genetics
|
June 27, 2021
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Jonathan Lévy, Bérénice Schell, Hala Nasser, et al.
European Journal of Human Genetics : EJHG
|
October 22, 2015
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
Julien Thevenon, Céline Souchay, Gail K Seabold, et al.
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Search research articles
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Showing results (21-30 of 75) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
June 27, 2019
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases
Daphné Lehalle, Roberto Colombo, Michael O'Grady, et al.
Communications Biology
|
July 8, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, et al.
Human Molecular Genetics
|
December 9, 2015
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome
Véronique Chevrier, Ange-Line Bruel, Teunis J P Van Dam, et al.
American Journal of Medical Genetics. Part A
|
June 4, 2016
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
Alice Masurel-Paulet, Amélie Piton, Sophie Chancenotte, et al.
Human Mutation
|
September 27, 2021
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
Jean-Marie Ravel, Natacha Dreumont, Pauline Mosca, et al.
Prenatal Diagnosis
|
March 22, 2019
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
Marguerite Hureaux, Sarah Guterman, Bérénice Hervé, et al.
Oncotarget
|
February 7, 2023
The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles
Martin Chevarin, Diana Alcantara, Juliette Albuisson, et al.
Clinical Genetics
|
July 9, 2021
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement
Sofia Douzgou, Myfanwy Rawson, Eulalia Baselga, et al.
Clinical Genetics
|
June 27, 2021
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Jonathan Lévy, Bérénice Schell, Hala Nasser, et al.
European Journal of Human Genetics : EJHG
|
October 22, 2015
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
Julien Thevenon, Céline Souchay, Gail K Seabold, et al.
Page
of 8