Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

Stuve-Wiedemann syndrome: Is it underrecognized?

(2014) Gözde Yeşil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome

(2013) Sanae Numata et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

(2013) Kristoffer Haugarvoll et al.   Orphanet Journal of Rare Diseases

Stüve-Wiedemann syndrome and related bent bone dysplasias

(2012) N A Akawi et al.   CLINICAL GENETICS

Leukemia inhibitory factor: A paracrine mediator of bone metabolism

(2012) Natalie A. Sims et al.   GROWTH FACTORS

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity

(2010) C Jung et al.   CLINICAL GENETICS

Central and peripheral autonomic failure in cold-induced sweating syndrome type 1

(2010) R. Di Leo et al.   NEUROLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

(2009) Ingo Kurth et al.   NATURE GENETICS

Evaluation of sudomotor function in diabetes using the dynamic sweat test

(2009) V. Provitera et al.   NEUROLOGY