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Jennifer L Cohen

Showing results (31-40 of 41) with videos related to

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Prenatal Diagnosis|November 13, 2023
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospectsAkos Herzeg, Beltran Borges, Billie R Lianoglou, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 31, 2019
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and managementKelly A Duffy, Christopher M Cielo, Jennifer L Cohen, et al.
American Journal of Medical Genetics. Part A|August 19, 2023
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndromeM Makenzie Beaman, Lucia Guidugli, Monia Hammer, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 22, 2023
Phase I study of liver depot gene therapy in late-onset Pompe diseaseEdward C Smith, Sam Hopkins, Laura E Case, et al.
American Journal of Human Genetics|April 10, 2025
Advancing precision care in pregnancy through a treatable fetal findings listJennifer L Cohen, Michael Duyzend, Sophia M Adelson, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patientsJennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, et al.
American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Brain : a Journal of Neurology|March 6, 2025
Fetal malformations of cortical development: review and clinical guidanceJeffrey B Russ, Sonika Agarwal, Charu Venkatesan, et al.
The New England Journal of Medicine|November 9, 2022
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's DiseaseJennifer L Cohen, Pranesh Chakraborty, Karen Fung-Kee-Fung, et al.
Circulation. Genomic and Precision Medicine|July 3, 2023
<i>PRDM16</i> Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort StudyRyan J Kramer, Amir Nima Fatahian, Alice Chan, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Prenatal Diagnosis|November 13, 2023
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospectsAkos Herzeg, Beltran Borges, Billie R Lianoglou, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 31, 2019
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and managementKelly A Duffy, Christopher M Cielo, Jennifer L Cohen, et al.
American Journal of Medical Genetics. Part A|August 19, 2023
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndromeM Makenzie Beaman, Lucia Guidugli, Monia Hammer, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 22, 2023
Phase I study of liver depot gene therapy in late-onset Pompe diseaseEdward C Smith, Sam Hopkins, Laura E Case, et al.
American Journal of Human Genetics|April 10, 2025
Advancing precision care in pregnancy through a treatable fetal findings listJennifer L Cohen, Michael Duyzend, Sophia M Adelson, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patientsJennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, et al.
American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Brain : a Journal of Neurology|March 6, 2025
Fetal malformations of cortical development: review and clinical guidanceJeffrey B Russ, Sonika Agarwal, Charu Venkatesan, et al.
The New England Journal of Medicine|November 9, 2022
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's DiseaseJennifer L Cohen, Pranesh Chakraborty, Karen Fung-Kee-Fung, et al.
Circulation. Genomic and Precision Medicine|July 3, 2023
<i>PRDM16</i> Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort StudyRyan J Kramer, Amir Nima Fatahian, Alice Chan, et al.
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