Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by William A. Gahl
Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients With Suspected Smith-Magenis Syndrome Without the 17p11.2 Deletion
PLoS ONE
Multidisciplinary
Murine Isoforms of UDP-GlcNAc 2-Epimerase/ManNAc Kinase: Secondary Structures, Expression Profiles, and Response to ManNAc Therapy
Glycoconjugate Journal
Biochemistry
Cell Biology
Molecular Biology
Rapid Ultrastructural Detection of Success or Failure After Bone Marrow Transplantation in the Chediak-Higashi Syndrome
Platelets
Medicine
Hematology
NPC1 Deficiency in Mice Is Associated With Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology
Journal of Clinical Medicine
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
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
Genetics
The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences With the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis if Mutated in a Critical Region
American Journal of Human Genetics
Genetics
Evidence for Locus Heterogeneity in Puerto Ricans With Hermansky-Pudlak Syndrome
American Journal of Human Genetics
Genetics
Mutation in the Key Enzyme of Sialic Acid Biosynthesis Causes Severe Glomerular Proteinuria and Is Rescued by N-Acetylmannosamine
Journal of Clinical Investigation
Medicine
Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1
American Journal of Respiratory and Critical Care Medicine
Pulmonary
Critical Care
Respiratory Medicine
Intensive Care Medicine
‹
1
2
3
4
›
