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Garavelli

Showing results (581-590 of 610) with videos related to

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American Journal of Medical Genetics. Part A|January 17, 2013
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotypeDuccio Maria Cordelli, Livia Garavelli, Salvatore Savasta, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Journal of Medical Genetics|March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
Journal of Computational Chemistry|November 13, 2015
Molcas 8: New capabilities for multiconfigurational quantum chemical calculations across the periodic tableFrancesco Aquilante, Jochen Autschbach, Rebecca K Carlson, et al.
The Journal of Chemical Physics|June 8, 2020
Modern quantum chemistry with [Open]MolcasFrancesco Aquilante, Jochen Autschbach, Alberto Baiardi, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
The Journal of Chemical Physics|July 14, 2026
Perspective on a challenge: Predicting the photochemistry of cyclobutanoneJiří Janoš, Nanna Holmgaard List, Andrew J Orr-Ewing, et al.
American Journal of Human Genetics|January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathiesNataliya Di Donato, , Andrew Thom, et al.
American Journal of Human Genetics|March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhageMauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2026
International Clinical Evidence-based Guideline for Kleefstra SyndromeArianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, et al.
Pageof 61

Showing results (581-590 of 610) with videos related to

Sort By:
Pageof 61
American Journal of Medical Genetics. Part A|January 17, 2013
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotypeDuccio Maria Cordelli, Livia Garavelli, Salvatore Savasta, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Journal of Medical Genetics|March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
Journal of Computational Chemistry|November 13, 2015
Molcas 8: New capabilities for multiconfigurational quantum chemical calculations across the periodic tableFrancesco Aquilante, Jochen Autschbach, Rebecca K Carlson, et al.
The Journal of Chemical Physics|June 8, 2020
Modern quantum chemistry with [Open]MolcasFrancesco Aquilante, Jochen Autschbach, Alberto Baiardi, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
The Journal of Chemical Physics|July 14, 2026
Perspective on a challenge: Predicting the photochemistry of cyclobutanoneJiří Janoš, Nanna Holmgaard List, Andrew J Orr-Ewing, et al.
American Journal of Human Genetics|January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathiesNataliya Di Donato, , Andrew Thom, et al.
American Journal of Human Genetics|March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhageMauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2026
International Clinical Evidence-based Guideline for Kleefstra SyndromeArianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, et al.
Pageof 61