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Clinical Pediatrics
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September 28, 2017
Enuresis and Constipation in a 12-Year-Old
Gillis G Schwartz, Paul R Hillman, Emma V Omoruyi, et al.
American Journal of Medical Genetics. Part A
|
February 27, 2019
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype
Victoria F Wagner, Paul R Hillman, Allison D Britt, et al.
American Journal of Medical Genetics. Part A
|
September 2, 2021
The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report
Marta Frigeni, David F Rodriguez-Buritica, Heather Saavedra, et al.
BMC Developmental Biology
|
November 6, 2007
The Drosophila Perlecan gene trol regulates multiple signaling pathways in different developmental contexts
Jonathan R Lindner, Paul R Hillman, Andrea L Barrett, et al.
Molecular Genetics & Genomic Medicine
|
February 9, 2023
Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity
Kathryn Gunther, Essam M Imseis, Joyce P Samuel, et al.
Molecular Genetics and Metabolism
|
September 2, 2025
TPI deficiency: A case report and review of the literature
Aaron Williams, Monika Weisz-Hubshman, Vittoria Rossi, et al.
Orphanet Journal of Rare Diseases
|
July 29, 2025
Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes
Edwin Ferren, Paul R Hillman, Amy Kritzer, et al.
Epigenetics & Chromatin
|
May 19, 2017
Genomic imprinting does not reduce the dosage of UBE3A in neurons
Paul R Hillman, Sarah G B Christian, Ryan Doan, et al.
Developmental and Comparative Immunology
|
July 1, 2018
Postnatal changes in epigenetic modifications of neutrophils of foals are associated with increased ROS function and regulation of neutrophil function
Scott V Dindot, Ryan N Doan, Kyle R Kuskie, et al.
European Journal of Human Genetics : EJHG
|
December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder
Cosima M Schmid, Anne Gregor, Anna Ruiz, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Clinical Pediatrics
|
September 28, 2017
Enuresis and Constipation in a 12-Year-Old
Gillis G Schwartz, Paul R Hillman, Emma V Omoruyi, et al.
American Journal of Medical Genetics. Part A
|
February 27, 2019
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype
Victoria F Wagner, Paul R Hillman, Allison D Britt, et al.
American Journal of Medical Genetics. Part A
|
September 2, 2021
The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report
Marta Frigeni, David F Rodriguez-Buritica, Heather Saavedra, et al.
BMC Developmental Biology
|
November 6, 2007
The Drosophila Perlecan gene trol regulates multiple signaling pathways in different developmental contexts
Jonathan R Lindner, Paul R Hillman, Andrea L Barrett, et al.
Molecular Genetics & Genomic Medicine
|
February 9, 2023
Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity
Kathryn Gunther, Essam M Imseis, Joyce P Samuel, et al.
Molecular Genetics and Metabolism
|
September 2, 2025
TPI deficiency: A case report and review of the literature
Aaron Williams, Monika Weisz-Hubshman, Vittoria Rossi, et al.
Orphanet Journal of Rare Diseases
|
July 29, 2025
Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes
Edwin Ferren, Paul R Hillman, Amy Kritzer, et al.
Epigenetics & Chromatin
|
May 19, 2017
Genomic imprinting does not reduce the dosage of UBE3A in neurons
Paul R Hillman, Sarah G B Christian, Ryan Doan, et al.
Developmental and Comparative Immunology
|
July 1, 2018
Postnatal changes in epigenetic modifications of neutrophils of foals are associated with increased ROS function and regulation of neutrophil function
Scott V Dindot, Ryan N Doan, Kyle R Kuskie, et al.
European Journal of Human Genetics : EJHG
|
December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder
Cosima M Schmid, Anne Gregor, Anna Ruiz, et al.
Page
of 1