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Jessica A Scott

Showing results (21-30 of 24) with videos related to

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The Journal of Pediatrics|October 26, 2016
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 PresentationNicholas M McCrory, Mathew J Edick, Ayesha Ahmad, et al.
American Journal of Medical Genetics. Part A|November 6, 2024
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case SeriesSara Gracie, Prasannakumar Deshpande, Patrik Hollos, et al.
American Journal of Human Genetics|November 28, 2016
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and DeafnessAman George, Dina J Zand, Robert B Hufnagel, et al.
Human Mutation|January 14, 2014
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT geneSaadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, et al.
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Showing results (21-30 of 24) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 24 results.
The Journal of Pediatrics|October 26, 2016
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 PresentationNicholas M McCrory, Mathew J Edick, Ayesha Ahmad, et al.
American Journal of Medical Genetics. Part A|November 6, 2024
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case SeriesSara Gracie, Prasannakumar Deshpande, Patrik Hollos, et al.
American Journal of Human Genetics|November 28, 2016
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and DeafnessAman George, Dina J Zand, Robert B Hufnagel, et al.
Human Mutation|January 14, 2014
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT geneSaadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, et al.
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