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Pachyonychia congenita
PGD: a Celebration of 20 Years
Associated Palmoplantar Keratoderma
WES Gene Package Multiple Congenital Anomalie.Xlsx
1 Introduction 1
Hereditary Palmoplantar Keratoderma "Clinical and Genetic Differential Diagnosis"
Ectodermal Dysplasia (Generic Term)
Nova Scotia Atlee Perinatal Database Coding Manual 15 Edition (Version
Table I. Genodermatoses with Known Gene Defects 92 Pulkkinen
Atlas of DISEASES of the NAIL
NGS Oncology)
Acro-Osteolysis: a Complication of Jadassohn–Lewandowsky Syndrome
Genomeposter2009.Pdf
Boards' Fodder
Guiding Medical Accession Standards for the Commissioned Corps of the U.S
Genetic and Developmental Disorders of the Oral Mucosa: Epidemiology; Molecular Mechanisms; Diagnostic Criteria; Management
Smith-F.J.D.-2009.Pdf
Pachyonychia Congenita
A Large Mutational Study in Pachyonychia Congenita Neil J
Top View
Ectodermal Dysplasias with Identified Genes and Genetic Testing Available
THE BASEMENT MEMBRANE ZONE: MAKING the CONNECTION American Academy of Dermatology
British Columbia Laboratory Requisition This Requisition Form, When Completed, Constitutes a Referral to Lifelabs/BC Biomedical Laboratories Physicians
Boards' Fodder
Ontology-Based Methods for Disease Similarity Estimation and Drug
IPCC NEWS BRIEF Vol 13, No
S a M P L E Grand Rounds Presentation Pachyonychia
Keratin Gene Mutations in Disorders of Human Skin and Its Appendages
Boards' Fodder
IPCRR 2004 to 2007 PC Patients
Consensus Reclassification of Inherited
First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: a Case Report
2386 East Heritage Way, Suite B, Salt Lake City, Utah 84109 USA Phone +1-877-628-7300 • Email—
[email protected]
Acanthosis Nigricans 4 (Table) Benign Type 5 (Table) Acne Rosacea 40--3
Color Atlas of Oral Diseases
Collapse of the Keratin Filament Network Through the Expression Of
Pachyonychia Congenita
Blueprint Genetics Palmoplantar Keratoderma Panel
Continuing Medical Education
Pachyonychia Congenita Associated with Oral
Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
Voice of the Patient: Report from the Pachyonychia Congenita (PC) Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting
Rare Disease Registries in Europe
Plantar Pain in Pachyonychia Congenita
New Insight Into Skin Epithelial Homeostasis An
Text Atlas of Nail Disorders
Mosaicism in Human Skin
Nova Scotia Atlee Perinatal Database Coding Manual 21St Edition (Version 21.0.0)
EB Simplex Superficialis Resulting from a Mutation in the Type VII
A KRT6A Mutation P.Ile462asn in a Chinese Family with Pachyonychia Congenita, and Identifcation of Maternal Mosaicism
WES Gene Package Multiple Congenital Anomalie
Associated Palmoplantar Keratoderma: New Insights Into Skin Epithelial Homeostasis and Avenues for Treatment* 1 1,2 A.G
REPORT Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14
Report of the 13Th Annual International Pachyonychia Congenita Consortium Symposium
Genetics of Human Isolated Hereditary Nail Disorders S
Two Different Mutations in the Same Codon of a Type II Hair Keratin (Hhb6) in Patients with Monilethrix
Prevalence and Incidence of Rare Diseases
Pachyonychia Congenita: a Spectrum of Krt6a Mutations in Australian Patients
Keratins and Disease at a Glance
The Role of Genetic Testing and Effect on Patient Care
Pachyonychia Congenita: a Case Report
Therapy for Dominant Inherited Diseases by Allele-Specific RNA Interference
The Global Genes RARE Foundation Alliance Is Made up of Over 600
Disease ID Disorder Name Gene Symbols OMIM ID