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Trine Prescott

Showing results (21-30 of 38) with videos related to

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American Journal of Human Genetics|March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial PhenotypingFelix Marbach, Cecilie F Rustad, Angelika Riess, et al.
Human Molecular Genetics|November 20, 2012
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1Anne M Slavotinek, Pavni Mehrotra, Irina Nazarenko, et al.
Human Molecular Genetics|July 10, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gatingYongqiang Zhang, Georgios Tachtsidis, Claudia Schob, et al.
The Journal of Clinical Endocrinology and Metabolism|August 1, 2014
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patientsSéverine Marcos, Julie Sarfati, Chrystel Leroy, et al.
Human Mutation|December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityPhilip B Daniel, Tim Morgan, Yasemin Alanay, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresKaren J Low, Morad Ansari, Rami Abou Jamra, et al.
American Journal of Human Genetics|June 26, 2012
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityTjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, et al.
Brain : a Journal of Neurology|March 2, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
European Journal of Human Genetics : EJHG|November 29, 2017
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patientsStéphanie Moortgat, Siren Berland, Ingvild Aukrust, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
American Journal of Human Genetics|March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial PhenotypingFelix Marbach, Cecilie F Rustad, Angelika Riess, et al.
Human Molecular Genetics|November 20, 2012
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1Anne M Slavotinek, Pavni Mehrotra, Irina Nazarenko, et al.
Human Molecular Genetics|July 10, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gatingYongqiang Zhang, Georgios Tachtsidis, Claudia Schob, et al.
The Journal of Clinical Endocrinology and Metabolism|August 1, 2014
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patientsSéverine Marcos, Julie Sarfati, Chrystel Leroy, et al.
Human Mutation|December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityPhilip B Daniel, Tim Morgan, Yasemin Alanay, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresKaren J Low, Morad Ansari, Rami Abou Jamra, et al.
American Journal of Human Genetics|June 26, 2012
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityTjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, et al.
Brain : a Journal of Neurology|March 2, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
European Journal of Human Genetics : EJHG|November 29, 2017
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patientsStéphanie Moortgat, Siren Berland, Ingvild Aukrust, et al.
Pageof 4