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American Journal of Medical Genetics. Part A
|
June 13, 2015
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study
Barbara K Burton, Kenneth I Berger, Gregory D Lewis, et al.
Biorxiv : the Preprint Server for Biology
|
August 6, 2025
Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics
Chaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun, et al.
Molecular Genetics and Metabolism Reports
|
September 4, 2023
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency
Samar Rahhal, Cristan Farmer, Audrey Thurm, et al.
American Journal of Medical Genetics. Part A
|
May 17, 2007
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation
Frank J Probst, Elizabeth R Roeder, Victoria B Enciso, et al.
Molecular Genetics and Metabolism Reports
|
December 6, 2023
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"
Samar Rahhal, Cristan Farmer, Audrey Thurm, et al.
Molecular Genetics and Metabolism Reports
|
August 10, 2016
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
Taraka R Donti, Gerarda Cappuccio, Leroy Hubert, et al.
Journal of Health Psychology
|
June 23, 2026
Self-perceived burden and mental health outcomes in adults with osteogenesis imperfecta
Emily R Strouphauer, Camille Villar, Ryan J McCarty, et al.
American Journal of Human Genetics
|
January 9, 2008
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome
Shay Ben-Shachar, Zhishuo Ou, Chad A Shaw, et al.
Molecular Genetics and Metabolism
|
November 15, 2011
Neurologic considerations in propionic acidemia
John Schreiber, Kimberly A Chapman, Marshall L Summar, et al.
Molecular Genetics and Metabolism
|
October 12, 2011
Natural history of propionic acidemia
Loren Pena, Jill Franks, Kimberly A Chapman, et al.
Page
of 19
Search research articles
Search
Showing results (111-120 of 184) with videos related to
Sort By:
Page
of 19
American Journal of Medical Genetics. Part A
|
June 13, 2015
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study
Barbara K Burton, Kenneth I Berger, Gregory D Lewis, et al.
Biorxiv : the Preprint Server for Biology
|
August 6, 2025
Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics
Chaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun, et al.
Molecular Genetics and Metabolism Reports
|
September 4, 2023
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency
Samar Rahhal, Cristan Farmer, Audrey Thurm, et al.
American Journal of Medical Genetics. Part A
|
May 17, 2007
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation
Frank J Probst, Elizabeth R Roeder, Victoria B Enciso, et al.
Molecular Genetics and Metabolism Reports
|
December 6, 2023
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"
Samar Rahhal, Cristan Farmer, Audrey Thurm, et al.
Molecular Genetics and Metabolism Reports
|
August 10, 2016
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
Taraka R Donti, Gerarda Cappuccio, Leroy Hubert, et al.
Journal of Health Psychology
|
June 23, 2026
Self-perceived burden and mental health outcomes in adults with osteogenesis imperfecta
Emily R Strouphauer, Camille Villar, Ryan J McCarty, et al.
American Journal of Human Genetics
|
January 9, 2008
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome
Shay Ben-Shachar, Zhishuo Ou, Chad A Shaw, et al.
Molecular Genetics and Metabolism
|
November 15, 2011
Neurologic considerations in propionic acidemia
John Schreiber, Kimberly A Chapman, Marshall L Summar, et al.
Molecular Genetics and Metabolism
|
October 12, 2011
Natural history of propionic acidemia
Loren Pena, Jill Franks, Kimberly A Chapman, et al.
Page
of 19