Search research articles
Contact Us
Filters
Showing results (181-190 of 276) with videos related to
Page
of 28
Sort By:
International Journal of Pediatric Endocrinology
|
October 29, 2010
Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team
Ganka 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 hypoplasia
Simran 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 17q12
Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Joseph Shen, et al.
Biorxiv : the Preprint Server for Biology
|
April 10, 2026
ATGL-catalyzed lipid catabolism promotes DNA repair
Mahima Devarajan, Rachel K Meyer, Gavin Fredrickson, 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 Alfa
Kenneth 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 development
Ganka 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 Abnormalities
Ender 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 review
Nishitha 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 Diagnosis
Adam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2016
Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Marcus J Miller, Adam D Kennedy, Andrea D Eckhart, et al.
Page
of 28
Search research articles
Search
Showing results (181-190 of 276) with videos related to
Sort By:
Page
of 28
International Journal of Pediatric Endocrinology
|
October 29, 2010
Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team
Ganka 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 hypoplasia
Simran 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 17q12
Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Joseph Shen, et al.
Biorxiv : the Preprint Server for Biology
|
April 10, 2026
ATGL-catalyzed lipid catabolism promotes DNA repair
Mahima Devarajan, Rachel K Meyer, Gavin Fredrickson, 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 Alfa
Kenneth 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 development
Ganka 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 Abnormalities
Ender 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 review
Nishitha 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 Diagnosis
Adam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2016
Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Marcus J Miller, Adam D Kennedy, Andrea D Eckhart, et al.
Page
of 28