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American Journal of Medical Genetics. Part A
|
October 1, 2019
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome
Alana M McNeill, Rebekah L Hudock, Allison M H Foy, et al.
Pediatrics
|
July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
Dietrich Matern, Miao He, Susan A Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 5, 2019
Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines
Wylie Burke, Ellen Wright Clayton, Susan M Wolf, et al.
Molecular Syndromology
|
June 22, 2018
Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions
Hannah C D Esdal, Muhammad B Ghbeis, Daniel A Saltzman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 9, 2026
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Wendy E Smith, Susan A Berry, Kaitlyn Bloom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 4, 2024
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Wendy E Smith, Susan A Berry, Kaitlyn Bloom, et al.
Molecular Genetics and Metabolism
|
May 23, 2016
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
Loren D M Pena, Sandra C van Calcar, Joyanna Hansen, et al.
Molecular Genetics and Metabolism
|
March 18, 2014
Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes
Susan A Berry, Uta Lichter-Konecki, George A Diaz, et al.
Molecular Genetics and Metabolism
|
April 13, 2010
Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control
Brendan Lee, William Rhead, George A Diaz, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2019
A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy
Katie Wiens, Susan A Berry, Hyoung Choi, et al.
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of 8
Search research articles
Search
Showing results (41-50 of 74) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
October 1, 2019
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome
Alana M McNeill, Rebekah L Hudock, Allison M H Foy, et al.
Pediatrics
|
July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
Dietrich Matern, Miao He, Susan A Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 5, 2019
Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines
Wylie Burke, Ellen Wright Clayton, Susan M Wolf, et al.
Molecular Syndromology
|
June 22, 2018
Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions
Hannah C D Esdal, Muhammad B Ghbeis, Daniel A Saltzman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 9, 2026
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Wendy E Smith, Susan A Berry, Kaitlyn Bloom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 4, 2024
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Wendy E Smith, Susan A Berry, Kaitlyn Bloom, et al.
Molecular Genetics and Metabolism
|
May 23, 2016
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
Loren D M Pena, Sandra C van Calcar, Joyanna Hansen, et al.
Molecular Genetics and Metabolism
|
March 18, 2014
Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes
Susan A Berry, Uta Lichter-Konecki, George A Diaz, et al.
Molecular Genetics and Metabolism
|
April 13, 2010
Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control
Brendan Lee, William Rhead, George A Diaz, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2019
A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy
Katie Wiens, Susan A Berry, Hyoung Choi, et al.
Page
of 8