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V Reid Sutton

Showing results (91-100 of 184) with videos related to

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American Journal of Medical Genetics. Part A|August 3, 2016
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset featuresPatricia G Wheeler, Bobby G Ng, Laura Sanford, et al.
American Journal of Medical Genetics. Part A|June 15, 2023
A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfectaW Conor Rork, Alyssa G Hertz, Andrew D Wiese, et al.
International Journal of Pediatric Endocrinology|October 29, 2010
Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine TeamGanka Douglas, Marni E Axelrad, Mary L Brandt, et al.
Molecular Genetics and Metabolism Reports|June 20, 2017
A non-mosaic <i>PORCN</i> mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasiaSimran Madan, Wei Liu, James T Lu, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Joseph Shen, et al.
JIMD Reports|November 22, 2017
Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase AlfaKenneth I Berger, Barbara K Burton, Gregory D Lewis, et al.
Pediatric Annals|April 13, 2012
Guidelines for evaluating and managing children born with disorders of sexual developmentGanka Douglas, Marni E Axelrad, Mary L Brandt, et al.
American Journal of Medical Genetics. Part A|August 14, 2019
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal AbnormalitiesEnder Karaca, Jennifer E Posey, Bret Bostwick, et al.
Molecular Genetics and Metabolism|November 24, 2019
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature reviewNishitha R Pillai, Bridget M Stroup, Anna Poliner, et al.
Frontiers in Neuroscience|February 22, 2020
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Pageof 19

Showing results (91-100 of 184) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|August 3, 2016
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset featuresPatricia G Wheeler, Bobby G Ng, Laura Sanford, et al.
American Journal of Medical Genetics. Part A|June 15, 2023
A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfectaW Conor Rork, Alyssa G Hertz, Andrew D Wiese, et al.
International Journal of Pediatric Endocrinology|October 29, 2010
Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine TeamGanka Douglas, Marni E Axelrad, Mary L Brandt, et al.
Molecular Genetics and Metabolism Reports|June 20, 2017
A non-mosaic <i>PORCN</i> mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasiaSimran Madan, Wei Liu, James T Lu, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Joseph Shen, et al.
JIMD Reports|November 22, 2017
Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase AlfaKenneth I Berger, Barbara K Burton, Gregory D Lewis, et al.
Pediatric Annals|April 13, 2012
Guidelines for evaluating and managing children born with disorders of sexual developmentGanka Douglas, Marni E Axelrad, Mary L Brandt, et al.
American Journal of Medical Genetics. Part A|August 14, 2019
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal AbnormalitiesEnder Karaca, Jennifer E Posey, Bret Bostwick, et al.
Molecular Genetics and Metabolism|November 24, 2019
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature reviewNishitha R Pillai, Bridget M Stroup, Anna Poliner, et al.
Frontiers in Neuroscience|February 22, 2020
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Pageof 19