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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Journal of bone and mineral research, 2011-03, Vol.26 (3), p.666-672

2011

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Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study

Human genetics, 2013-07, Vol.132 (7), p.771-781

2013

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Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

Clinical genetics, 2015-11, Vol.88 (5), p.431-440

2015

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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Journal of medical genetics, 1999-06, Vol.36 (6), p.437-446

1999

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Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Journal of intellectual disability research, 2020-12, Vol.64 (12), p.956-969

2020

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Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

Human molecular genetics, 2015-07, Vol.24 (13), p.3708-3717

2015

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Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

Clinical genetics, 2017-06, Vol.91 (6), p.868-880

2017

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

Journal of medical genetics, 2002-08, Vol.39 (8), p.603-607

2002

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Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

Neurology, 2006-04, Vol.66 (7), p.1044-1048

2006

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Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family

Journal of medical genetics, 2006-12, Vol.43 (12), p.e58-e58

2006

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Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients

Pathologie biologie (Paris), 2014-02, Vol.62 (1), p.38-40

2014

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Comparison of the effect of ranibizumab and dexamethasone implant in diabetic macular edema with concurrent epiretinal membrane

Journal francais d'ophtalmologie, 2019-09, Vol.42 (7), p.683-689

2019

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Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance

Journal of medical genetics, 2002-09, Vol.39 (9), p.666-670

2002

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A short rib polydactyly syndrome overlapping both lethal and nonlethal types

Genetic counseling, 2012-01, Vol.23 (2), p.231

2012

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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

International journal of human genetics, 2015-01, Vol.60 (1), p.1-9

2015

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A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations

Journal of medical genetics, 1998-07, Vol.35 (7), p.566-572

1998

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Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

Human mutation, 2013-10, Vol.34 (10), p.1381-1386

2013

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Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR

Clinical and experimental obstetrics & gynecology, 2006, Vol.33 (2), p.105-106

2006

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Werner syndrome: clinical evaluation of two cases and a novel mutation

Genetic counseling, 2014-01, Vol.25 (2), p.119

2014

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Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

American journal of human genetics, 2008-06, Vol.82 (6), p.1290-1305

2008

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A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D

Genetic counseling, 2009-01, Vol.20 (2), p.133

2009

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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Orphanet journal of rare diseases, 2014-05, Vol.9 (1), p.74-74, Article 74

2014

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Human mutation, 2008-10, Vol.29 (10), p.1237-1246

2008

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A variant of Cenani-Lenz type syndactyly

Genetic counseling, 2000, Vol.11 (1), p.41

2000

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

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

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family

Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients

Comparison of the effect of ranibizumab and dexamethasone implant in diabetic macular edema with concurrent epiretinal membrane

Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance

A short rib polydactyly syndrome overlapping both lethal and nonlethal types

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR

Werner syndrome: clinical evaluation of two cases and a novel mutation

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

A variant of Cenani-Lenz type syndactyly

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