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Manuela Morleo

Showing results (31-40 of 47) with videos related to

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American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
American Journal of Human Genetics|March 31, 2022
De novo variants in ATP2B1 lead to neurodevelopmental delayMeer Jacob Rahimi, Nicole Urban, Meret Wegler, et al.
Genes|September 28, 2023
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature ReviewPatricia Pascual, Jair Tenorio-Castano, Cyril Mignot, et al.
American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
American Journal of Human Genetics|March 31, 2022
De novo variants in ATP2B1 lead to neurodevelopmental delayMeer Jacob Rahimi, Nicole Urban, Meret Wegler, et al.
Genes|September 28, 2023
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature ReviewPatricia Pascual, Jair Tenorio-Castano, Cyril Mignot, et al.
American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Pageof 5