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Genetics
Citations 1-10 of 162 total displayed.
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Most recent content
(1 Jun 2008):
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- Observations
Value of a Novel Neisseria Meningitidis–Specific Polymerase Chain Reaction Assay in Skin Biopsy Specimens as a Diagnostic Tool in Chronic Meningococcemia
- Laurent Parmentier; Christian Garzoni; Christophe Antille; Laurent Kaiser; Béatrice Ninet; Luca Borradori
Arch Dermatol 2008; 144: 770-773.
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- Correspondence
Torsemide-Induced Pseudoporphyria
- Alicia Pérez-Bustillo; Pedro Sánchez-Sambucety; Óscar Suárez-Amor; Manuel Angel Rodríiguez-Prieto
Arch Dermatol 2008; 144: 812-813.
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Past content
(since Feb 1998):
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- Studies
Heterozygosity for a Single Mutation in the ABCC6 Gene May Closely Mimic PXE: Consequences of This Phenotype Overlap for the Definition of PXE
- Ludovic Martin; Frédéric Maître; Pierre Bonicel; Patrick Daudon; Christophe Verny; Dominique Bonneau; Olivier Le Saux; Nicolas Chassaing
Arch Dermatol 2008; 144: 301-306.
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- Studies
A Romanian Population Isolate With High Frequency of Vitiligo and Associated Autoimmune Diseases
- Stanca A. Birlea; Pamela R. Fain; Richard A. Spritz
Arch Dermatol 2008; 144: 310-316.
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- Studies
Primary Erythermalgia as a Sodium Channelopathy: Screening for SCN9A Mutations: Exclusion of a Causal Role of SCN10A and SCN11A
- Joost P. H. Drenth; Rene H. M. te Morsche; Sahar Mansour; Peter S. Mortimer
Arch Dermatol 2008; 144: 320-324.
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- Observations
Between Light and Dark, the Chimera Comes Out
- Dan Lipsker; Elisabeth Flory; Marie-Louise Wiesel; Daniel Hanau; Henri de la Salle
Arch Dermatol 2008; 144: 327-330.
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- Observations
Defective Lamellar Granule Secretion in Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Caused by a Mutation in VPS33B
- Dov Hershkovitz; Hannah Mandel; Akemi Ishida-Yamamoto; Ilana Chefetz; Bayan Hino; Anthony Luder; Margarita Indelman; Reuven Bergman; Eli Sprecher
Arch Dermatol 2008; 144: 334-340.
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- Observations
X-Linked Ectodermal Dysplasia With Immunodeficiency Caused by NEMO Mutation: Early Recognition and Diagnosis
- Anthony J. Mancini; Leslie P. Lawley; Gulbu Uzel
Arch Dermatol 2008; 144: 342-346.
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- Observations
Self-Healing Collodion Membrane and Mild Nonbullous Congenital Ichthyosiform Erythroderma Due to 2 Novel Mutations in the ALOX12B Gene
- Mandy Harting; Nicola Brunetti-Pierri; C. Stanley Chan; Joslyn Kirby; Megan K. Dishop; Gabriele Richard; Fernando Scaglia; Albert C. Yan; Moise L. Levy
Arch Dermatol 2008; 144: 351-356.
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- Editorials
Recessive Palmoplantar Keratodermas: A Fertile Biological Hunting Ground
- Laurent Parmentier; Peter M. Steijlen; Maurice A. M. van Steensel
Arch Dermatol 2008; 144: 384-385.
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