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Hypercementosis Associated with ENPP1 Mutations and GACI

Journal of dental research, 2018-04, Vol.97 (4), p.432-441

2018

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Bayesian model of disease progression in GNE myopathy

Statistics in medicine, 2019-04, Vol.38 (8), p.1459-1474

2019

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Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism

Clinical genetics, 2018-03, Vol.93 (3), p.712-718

2018

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Journal of medical genetics, 2010-01, Vol.47 (1), p.8-21

2010

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Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

Clinical genetics, 2017-05, Vol.91 (5), p.690-696

2017

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Platelet‐Derived CD154: Ultrastructural Localization and Clinical Correlation in Organ Transplantation

American journal of transplantation, 2012-11, Vol.12 (11), p.3143-3151

2012

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Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

Journal of medical genetics, 2009-12, Vol.46 (12), p.803-810

2009

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Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking

Thrombosis and haemostasis, 2001-07, Vol.86 (1), p.233-245

2001

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Chemical individuality: Concept and outlook

Journal of Inherited Metabolic Disease, 2008-10, Vol.31 (5), p.630-640

Gahl, W. A.

2008

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The Undiagnosed Diseases Network International: Five years and more

Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.243-254

2020

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Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.640-650

2009

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Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes

Current molecular medicine, 2002-08, Vol.2 (5), p.451-467

2002

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AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

Molecular biology of the cell, 2001-07, Vol.12 (7), p.2075-2085

2001

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Proteomic analysis of platelet α‐granules using mass spectrometry

Journal of thrombosis and haemostasis, 2007-09, Vol.5 (9), p.1945-1955

2007

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Inflammatory bowel disease in Hermansky–Pudlak syndrome: a retrospective single‐centre cohort study

Journal of internal medicine, 2021-07, Vol.290 (1), p.129-140

2021

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Mutations in the Human UDP- N-Acetylglucosamine 2-Epimerase Gene Define the Disease Sialuria and the Allosteric Site of the Enzyme

American journal of human genetics, 1999-06, Vol.64 (6), p.1563-1569

1999

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Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

The New England journal of medicine, 1998-04, Vol.338 (18), p.1258-1265

1998

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Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening

Molecular genetics and metabolism, 2011-03, Vol.102 (3), p.339-342

2011

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The α‐granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome

Journal of thrombosis and haemostasis, 2010-08, Vol.8 (8), p.1786-1796

2010

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Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability

Molecular genetics and metabolism, 2018-07, Vol.124 (3), p.204-209

2018

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Novel mutations in the HPS1 gene among Puerto Rican patients

Clinical genetics, 2011-06, Vol.79 (6), p.561-567

2011

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CTNS Mutations in an American-Based Population of Cystinosis Patients

American journal of human genetics, 1998-11, Vol.63 (5), p.1352-1362

1998

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A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

The American journal of medicine, 2000-04, Vol.108 (5), p.423-427

2000

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Craniofacial and dental findings in cystinosis

Oral diseases, 2010-07, Vol.16 (5), p.488-495

2010

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Genetic screening in Iranian patients with retinoblastoma

Eye (London), 2017-04, Vol.31 (4), p.620-627

2017

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Hypercementosis Associated with ENPP1 Mutations and GACI

Bayesian model of disease progression in GNE myopathy

Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

Platelet‐Derived CD154: Ultrastructural Localization and Clinical Correlation in Organ Transplantation

Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking

Chemical individuality: Concept and outlook

The Undiagnosed Diseases Network International: Five years and more

Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes

AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

Proteomic analysis of platelet α‐granules using mass spectrometry

Inflammatory bowel disease in Hermansky–Pudlak syndrome: a retrospective single‐centre cohort study

Mutations in the Human UDP- N-Acetylglucosamine 2-Epimerase Gene Define the Disease Sialuria and the Allosteric Site of the Enzyme

Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening

The α‐granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability

Novel mutations in the HPS1 gene among Puerto Rican patients

CTNS Mutations in an American-Based Population of Cystinosis Patients

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

Craniofacial and dental findings in cystinosis

Genetic screening in Iranian patients with retinoblastoma

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