(Q55060066)

16 June 2018

title

Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis. (English)

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16 June 2018

author name string

Eda Didem Kurt-Sukur

1

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16 June 2018

Pelin Ozlem Simsek-Kiper

2

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16 June 2018

Gülen Eda Utine

3

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16 June 2018

Koray Boduroglu

4

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16 June 2018

Yasemin Alanay

5

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16 June 2018

language of work or name

English

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publication date

30 April 2015

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16 June 2018

American Journal of Medical Genetics

published in

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16 June 2018

volume

167A

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16 June 2018

issue

9

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16 June 2018

page(s)

2065-2074

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16 June 2018

Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population

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

21 January 2018

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Clinical epidemiology of skeletal dysplasias in South America.

21 January 2018

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

21 January 2018

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Dysosteosclerosis: a report of three new cases and evolution of the radiological findings

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37122

Identification of CANT1 mutations in Desbuquois dysplasia

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37122

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37122

Prevalence and sociodemographic correlates of consanguineous marriages in Turkey

21 January 2018

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TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37122

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

21 January 2018

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Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37122

Consanguinity and child health

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37122

Spondyloenchondrodysplasia: clinical variability in three cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37122

Nosology and classification of genetic skeletal disorders: 2010 revision.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37122

Molecular study ofWISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37122

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37122

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16 June 2018

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16 June 2018