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Darius J Adams

Showing results (1-10 of 12) with videos related to

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Pediatric Clinics of North America|April 4, 2015
Common genetic and epigenetic syndromesDarius J Adams, David A Clark
American Journal of Medical Genetics. Part A|March 28, 2020
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)Ryan H Peretz, Christina H Flora, Darius J Adams
The Journal of Pediatrics|October 2, 2010
Tetrahydrobiopterin therapy for phenylketonuria in infants and young childrenBarbara K Burton, Darius J Adams, Dorothy K Grange, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 23, 2009
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspectsAyman W El-Hattab, Fang-Yuan Li, Joseph Shen, et al.
Molecular Genetics and Metabolism|December 29, 2009
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York StateGeorgianne L Arnold, Carlos A Saavedra-Matiz, Patricia A Galvin-Parton, et al.
Molecular Genetics and Metabolism|May 20, 2019
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuriaAnia C Muntau, Darius J Adams, Amaya Bélanger-Quintana, et al.
American Journal of Human Genetics|May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial FeaturesMuhammad Ansar, Farid Ullah, Sohail A Paracha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2016
Newborn screening for Krabbe disease in New York State: the first eight years' experienceJoseph J Orsini, Denise M Kay, Carlos A Saavedra-Matiz, et al.
Pediatric Neurology|March 24, 2009
Newborn screening for Krabbe disease: the New York State modelPatricia K Duffner, Michele Caggana, Joseph J Orsini, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Pediatric Clinics of North America|April 4, 2015
Common genetic and epigenetic syndromesDarius J Adams, David A Clark
American Journal of Medical Genetics. Part A|March 28, 2020
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)Ryan H Peretz, Christina H Flora, Darius J Adams
The Journal of Pediatrics|October 2, 2010
Tetrahydrobiopterin therapy for phenylketonuria in infants and young childrenBarbara K Burton, Darius J Adams, Dorothy K Grange, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 23, 2009
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspectsAyman W El-Hattab, Fang-Yuan Li, Joseph Shen, et al.
Molecular Genetics and Metabolism|December 29, 2009
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York StateGeorgianne L Arnold, Carlos A Saavedra-Matiz, Patricia A Galvin-Parton, et al.
Molecular Genetics and Metabolism|May 20, 2019
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuriaAnia C Muntau, Darius J Adams, Amaya Bélanger-Quintana, et al.
American Journal of Human Genetics|May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial FeaturesMuhammad Ansar, Farid Ullah, Sohail A Paracha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2016
Newborn screening for Krabbe disease in New York State: the first eight years' experienceJoseph J Orsini, Denise M Kay, Carlos A Saavedra-Matiz, et al.
Pediatric Neurology|March 24, 2009
Newborn screening for Krabbe disease: the New York State modelPatricia K Duffner, Michele Caggana, Joseph J Orsini, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
Pageof 2