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Can Ficicioglu

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Journal of Inherited Metabolic Disease|September 12, 2022

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALTQuinton S Katler, Karolina M Stepien, Nathan Paull, et al.

American Journal of Human Genetics|February 7, 2008

Structural variation of chromosomes in autism spectrum disorderChristian R Marshall, Abdul Noor, John B Vincent, et al.

Journal of Inherited Metabolic Disease|April 26, 2026

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type CTarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.

American Journal on Intellectual and Developmental Disabilities|November 19, 2020

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental DisordersCristan A Farmer, Aaron J Kaat, Audrey Thurm, et al.

Orphanet Journal of Rare Diseases|August 21, 2015

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.

Pediatric Neurology|November 19, 2025

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational StudyJudith S Miller, Cristan Farmer, Susan Blair, et al.

The New England Journal of Medicine|February 7, 2014

Multiple phenotypes in phosphoglucomutase 1 deficiencyLaura C Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, et al.

Human Mutation|March 3, 2016

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.

Journal of Inherited Metabolic Disease|February 19, 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registryMartina Huemer, Daria Diodato, Diego Martinelli, et al.

Brain : a Journal of Neurology|November 15, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.

Pageof 11

Search research articles

Showing results (101-110 of 110) with videos related to

Sort By:

Pageof 11

You have reached the last page of results.This site can display upto 110 results.

Journal of Inherited Metabolic Disease|September 12, 2022

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALTQuinton S Katler, Karolina M Stepien, Nathan Paull, et al.

American Journal of Human Genetics|February 7, 2008

Structural variation of chromosomes in autism spectrum disorderChristian R Marshall, Abdul Noor, John B Vincent, et al.

Journal of Inherited Metabolic Disease|April 26, 2026

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type CTarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.

American Journal on Intellectual and Developmental Disabilities|November 19, 2020

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental DisordersCristan A Farmer, Aaron J Kaat, Audrey Thurm, et al.

Orphanet Journal of Rare Diseases|August 21, 2015

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.

Pediatric Neurology|November 19, 2025

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational StudyJudith S Miller, Cristan Farmer, Susan Blair, et al.

The New England Journal of Medicine|February 7, 2014

Multiple phenotypes in phosphoglucomutase 1 deficiencyLaura C Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, et al.

Human Mutation|March 3, 2016

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.

Journal of Inherited Metabolic Disease|February 19, 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registryMartina Huemer, Daria Diodato, Diego Martinelli, et al.

Brain : a Journal of Neurology|November 15, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.

Pageof 11