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1.
Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice-based competencies in clinical care through remote supervision.
J Genet Couns;
33(1): 86-102, 2024 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38339846
2.
Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.
Am J Med Genet A;
188(4): 1239-1244, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34905296
3.
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
J Inherit Metab Dis;
45(2): 157-168, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34625984
4.
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Am J Hum Genet;
102(1): 188-195, 2018 01 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29304374
5.
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Mol Genet Metab;
132(1): 19-26, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33388234
6.
Liver transplant as a curative treatment in a pediatric patient with classic homocystinuria: A case report.
Am J Med Genet A;
185(4): 1247-1250, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33443292
7.
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
Am J Med Genet A;
185(6): 1870-1874, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33729671
8.
Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med;
22(11): 1735-1742, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32741966
9.
Developing interactions with industry in rare diseases: lessons learned and continuing challenges.
Genet Med;
22(1): 219-226, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31337884
10.
Foundation of the Newborn Screening Translational Research Network and its tools for research.
Genet Med;
21(6): 1271-1279, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30393376
11.
Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.
Genet Med;
21(11): 2431-2438, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31160753
12.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med;
21(9): 2036-2042, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30739909
13.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Mol Genet Metab;
127(4): 336-345, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31326288
14.
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.
Am J Med Genet A;
179(12): 2433-2446, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31566897
15.
A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.
Am J Med Genet A;
179(7): 1205-1213, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31074578
16.
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Am J Hum Genet;
96(5): 841-9, 2015 May 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25957469
17.
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2â¯months to 2â¯years of age with urea cycle disorders.
Mol Genet Metab;
125(3): 251-257, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30217721
18.
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.
Mol Genet Metab;
122(3): 46-53, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28916119
19.
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
J Pediatr;
180: 200-205.e8, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27776753
20.
An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).
J Genet Couns;
26(6): 1238-1243, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28451876