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A Bacino

Showing results (101-110 of 173) with videos related to

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The New England Journal of Medicine|July 4, 2019
C-Type Natriuretic Peptide Analogue Therapy in Children with AchondroplasiaRavi Savarirayan, Melita Irving, Carlos A Bacino, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
American Journal of Medical Genetics. Part A|October 18, 2011
A therapeutic trial of pro-methylation dietary supplements in Angelman syndromeLynne M Bird, Wen-Hann Tan, Carlos A Bacino, et al.
JAMA Pediatrics|November 17, 2025
Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical TrialRavi Savarirayan, Ciara McDonnell, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A|July 4, 2007
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogeneticsSau W Cheung, Chad A Shaw, Daryl A Scott, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
American Journal of Human Genetics|December 19, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismChunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, et al.
Cold Spring Harbor Molecular Case Studies|July 5, 2018
Further evidence for the involvement of <i>EFL1</i> in a Shwachman-Diamond-like syndrome and expansion of the phenotypic featuresQueenie K-G Tan, Heidi Cope, Rebecca C Spillmann, et al.
American Journal of Human Genetics|May 11, 2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3Jessica X Chong, Lindsay C Burrage, Anita E Beck, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27Sirisha Peddibhotla, Sandesh C S Nagamani, Ayelet Erez, et al.
Pageof 18

Showing results (101-110 of 173) with videos related to

Sort By:
Pageof 18
The New England Journal of Medicine|July 4, 2019
C-Type Natriuretic Peptide Analogue Therapy in Children with AchondroplasiaRavi Savarirayan, Melita Irving, Carlos A Bacino, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
American Journal of Medical Genetics. Part A|October 18, 2011
A therapeutic trial of pro-methylation dietary supplements in Angelman syndromeLynne M Bird, Wen-Hann Tan, Carlos A Bacino, et al.
JAMA Pediatrics|November 17, 2025
Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical TrialRavi Savarirayan, Ciara McDonnell, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A|July 4, 2007
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogeneticsSau W Cheung, Chad A Shaw, Daryl A Scott, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
American Journal of Human Genetics|December 19, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismChunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, et al.
Cold Spring Harbor Molecular Case Studies|July 5, 2018
Further evidence for the involvement of <i>EFL1</i> in a Shwachman-Diamond-like syndrome and expansion of the phenotypic featuresQueenie K-G Tan, Heidi Cope, Rebecca C Spillmann, et al.
American Journal of Human Genetics|May 11, 2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3Jessica X Chong, Lindsay C Burrage, Anita E Beck, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27Sirisha Peddibhotla, Sandesh C S Nagamani, Ayelet Erez, et al.
Pageof 18