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American Journal of Medical Genetics. Part A
|
August 31, 2018
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants
Irene J Chang, Angela Sun, Maryse L Bouchard, et al.
Neuropediatrics
|
January 14, 2021
Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features
Pin-Yi Ko, Ian A Glass, Suzanne Crandall, et al.
Biorxiv : the Preprint Server for Biology
|
July 28, 2023
Lipid nanoparticle-mediated delivery of mRNA into the mouse and human retina and other ocular tissues
Cheri Z Chambers, Gillian L Soo, Abbi L Engel, et al.
Stem Cell Reports
|
November 25, 2021
Rescuing human fetal tissue research in the United States: A call for additional regulatory reform
Katherine E MacDuffie, Insoo Hyun, Michaela M Krogen, et al.
Elife
|
May 17, 2019
PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice
Achira Roy, Rory M Murphy, Mei Deng, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Multi-omic integration reveals dynamic changes in human placental metabolism across gestation
Mariana Parenti, Sam Rosen, Maya Pettes, et al.
Skeletal Radiology
|
September 6, 2011
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis
Neil C Vining, Stephen Done, Ian A Glass, et al.
Journal of Child Neurology
|
May 4, 2004
Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study
Melissa A Parisi, Joseph D Pinter, Ian A Glass, et al.
Molecular Cytogenetics
|
May 13, 2008
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization
Karen D Tsuchiya, Kent E Opheim, Mark C Hannibal, et al.
American Journal of Medical Genetics. Part A
|
August 25, 2004
Spondylometaphyseal dysplasia with cone-rod dystrophy
Brent A Walters, Michael L Raff, James Ver Hoeve, et al.
Page
of 12
Search research articles
Search
Showing results (31-40 of 119) with videos related to
Sort By:
Page
of 12
American Journal of Medical Genetics. Part A
|
August 31, 2018
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants
Irene J Chang, Angela Sun, Maryse L Bouchard, et al.
Neuropediatrics
|
January 14, 2021
Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features
Pin-Yi Ko, Ian A Glass, Suzanne Crandall, et al.
Biorxiv : the Preprint Server for Biology
|
July 28, 2023
Lipid nanoparticle-mediated delivery of mRNA into the mouse and human retina and other ocular tissues
Cheri Z Chambers, Gillian L Soo, Abbi L Engel, et al.
Stem Cell Reports
|
November 25, 2021
Rescuing human fetal tissue research in the United States: A call for additional regulatory reform
Katherine E MacDuffie, Insoo Hyun, Michaela M Krogen, et al.
Elife
|
May 17, 2019
PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice
Achira Roy, Rory M Murphy, Mei Deng, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Multi-omic integration reveals dynamic changes in human placental metabolism across gestation
Mariana Parenti, Sam Rosen, Maya Pettes, et al.
Skeletal Radiology
|
September 6, 2011
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis
Neil C Vining, Stephen Done, Ian A Glass, et al.
Journal of Child Neurology
|
May 4, 2004
Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study
Melissa A Parisi, Joseph D Pinter, Ian A Glass, et al.
Molecular Cytogenetics
|
May 13, 2008
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization
Karen D Tsuchiya, Kent E Opheim, Mark C Hannibal, et al.
American Journal of Medical Genetics. Part A
|
August 25, 2004
Spondylometaphyseal dysplasia with cone-rod dystrophy
Brent A Walters, Michael L Raff, James Ver Hoeve, et al.
Page
of 12