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Menkes disease
The Inherited Metabolic Disorders News
Menkes Disease in 5 Siblings
Menkes Disease Submitted By: Alice Ho, Jean Mah, Robin Casey, Penney Gaul
Menkes Disease: Report of Two Cases
Multipoint Linkage Analysis in Menkes Disease T
Clinical Expression of Menkes Disease in Females with Normal Karyotype
Publications for John Christodoulou 2021 2020
Pili Torti: a Feature of Numerous Congenital and Acquired Conditions
Molecular Genetics and Metabolism Reports 24 (2020) 100625
Menkes Disease: a Biochemical Abnormality in Cultured Human Fibroblasts (Copper/Kinky-Hair Disease/X-Linked Inheritance) THOMAS J
Leukodystrophies by Raphael Schiffmann MD (Dr
Mouse Models of Human Disease. Part II: Recent Progress and Future Directions
Pigmentary Disorders of the Eyes and Skin Syril Keena T
ATP7A Sequencing for Menkes Disease and Occipital Horn Syndrome
Chelating Principles in Menkes and Wilson Diseases
The Genetics of Hair Shaft Disorders
Disorders of Lysosomes, Peroxisomes, and Mitochondria
Teaching Neuroimages: Menkes Kinky Hair Syndrome Roopa Seshadri, P.S
Top View
A Clinical Approach to the Diagnosis of Patients with Leukodystrophies and Genetic Leukoencephelopathies
Beacon Carrier Screening Detecting 400+ Conditions
Undiagnosed Wilson's Disease and Fibromyalgia Masking
Canine Models for Copper Homeostasis Disorders
Neuroimaging Changes in Menkes Disease, Part 2
SELF ASSESSMENT ANSWERS an Interesting Case of Thirst and Polyuria a Proliferating Pimple
Boards' Fodder
Neurodevelopment Next-Generation
Disease: Abnormalities of Copper, Zinc and Magnesium in Blood
ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes
The Nutritional Relationships of Copper David L
Beyond the Mind—Serum Trace Element Levels in Schizophrenic Patients: a Systematic Review
A Phenotype Map of the Mouse X Chromosome: Models for Human X-Linked Disease
The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
Changes in Body Weight and Height in Survivors of Menkes Disease
Expanded Carrier Screening
Diagnosis of Inherited Metabolic Disorders Affecting the Nervous System
Rare Forms of Dementia
Lyonization Effects of the T(X;16) Translocation on the Phenotypic Expression in a Rare Female with Menkes Disease
Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-Linked Hypohidr
Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches
ECS AR X-Linked Panel Versie V1 (124 Genen) Centrum Voor Medische Genetica Gent
Descriptions of Phenotypes
Rare Diseases Clinical Research Network (RDCRN) Publications
Title Mg, Zn and Cu Transport Proteins
Description Treatment Prognosis
Information Sheet on Exonic Deletion
Intelligence and Response to Phenylalanine Tolerance Tests Glutaric Acidemia: a New Disorder of Amino Acid Metabolism
NEWBORN SCREENING for FABRY DISEASE KDIGO Dietrich Matern, MD, Phd Biochemical Genetics Lab Mayo Clinic Disclosure of Interests
Menkes Syndrome
Consisting of Particle and Gaseous Phases)
Inherited Metabolic Disorders Presenting with Ataxia
Genomic Inform™ Test Carrier Screening Gene List
Menkes' Disease: Neurophysiological Aspects
Case Report Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome
The Morbid Anatomy of the Human Genome: Chromosomal Location of Mutations Causing Disease
A Rare Case of Menkes Kinky Hair Syndrome with Osseous Involvement
Prenatal Testing Requisition
Menkes Kinky Hair Disease: Characteristic .MR Angiographic Findings
Blueprint Genetics X-Linked Intellectual Disability Panel
Menkes Disease: Recent Advances and New Aspects
Zebrafish Models of Rare Hereditary Pediatric Diseases
Metabolic and Genetic Mimickers of Child Abuse
MENKES´ DISEASE Case Report
Menkes Disease
Pediatric Autonomic Disorders
Two New Cases and Review of the Literature
Prevalence and Incidence of Rare Diseases
Invitae Carrier Screening (Continued)
Linkage of Marie-Unna Hypotrichosis Locus to Chromosome 8P21 and Exclusion of 10 Genes Including the Hairless Gene by Mutation Analysis
Svndro,Ne of the Month Hypohidrotic Ectodermal Dysplasia
PGT-M Disease List
Invitae Carrier Screening the Insight Your Patients Need to Prepare for Tomorrow
Amyloidosis and Neuropathies Precision Panel Overview Indications
Skin Pigmentation Abnormalities and Their Possible Relationship with Skin Aging