Experience of a skeletal dysplasia registry in Turkey: A five-years retrospective analysis

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

(2014) Sheela Nampoothiri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical epidemiology of skeletal dysplasias in South America

(2012) Cecília O. Barbosa-Buck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of skeletal dysplasias in the Utah population

(2012) David A. Stevenson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

(2012) Nuria Garcia Segarra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

(2011) Ekkehart Lausch et al.   NATURE GENETICS

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

(2010) Yasemin Alanay et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

(2010) Ok-Hwa Kim et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Birth prevalence rates of skeletal dysplasias

(2010) Claude Stoll et al.   CLINICAL GENETICS

Identification of CANT1 Mutations in Desbuquois Dysplasia

(2009) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic skeletal disorders of the fetus and infant: Pathologic and molecular findings in a series of 41 cases

(2009) Anastasia E. Konstantinidou et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene

(2009) Faysal Gok et al.   EUROPEAN JOURNAL OF PEDIATRICS

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

(2009) Celine Huber et al.   HUMAN MUTATION

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

(2009) T Furuichi et al.   JOURNAL OF MEDICAL GENETICS

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

(2008) Ekkehart Lausch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and radiographic delineation of odontochondrodysplasia

(2008) Sheila Unger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis

(2008) Deborah Krakow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment

(2008) Nesibe Andiran et al.   PEDIATRICS INTERNATIONAL