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Report of second case and clinical and molecular characterization of Eiken syndrome

Clinical genetics, 2018-11, Vol.94 (5), p.457-460

2018

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Journal of medical genetics, 2006-08, Vol.43 (8), p.625-633

2006

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Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1

European journal of medical genetics, 2020-12, Vol.63 (12), p.104059, Article 104059

2020

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Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Journal of medical genetics, 2009-04, Vol.46 (4), p.233-241

2009

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The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

Journal of medical genetics, 2006-05, Vol.43 (5), p.406-413

2006

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The annual incidence of DiGeorge/velocardiofacial syndrome

Journal of medical genetics, 1998-09, Vol.35 (9), p.789-790

1998

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1213 A Boy with Hyperkalemia and Hypertension without Family History: Still Pseudohypoaldesteronism (Gordon Syndrome)?

Archives of disease in childhood, 2012-10, Vol.97 (Suppl 2), p.A347-A347

2012

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Nature genetics, 1995-07, Vol.10 (3), p.330-336

1995

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Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

Clinical genetics, 2011-10, Vol.80 (4), p.383-388

2011

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Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

Journal of medical genetics, 2006-01, Vol.43 (1), p.54-61

2006

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6C.01: CULLIN-3 MUTATIONS LEADING TO SKIPPING OF EXON 9 ARE RESPONSIBLE FOR SEVERE CASES OF FAMILIAL HYPERKALAEMIC HYPERTENSION

Journal of hypertension, 2015-06, Vol.33 Suppl 1 - ESH 2015 Abstract Book (Supplement 1), p.e79-e79

2015

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Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Journal of medical genetics, 2004-01, Vol.41 (1), p.52-59

2004

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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

Journal of medical genetics, 2007-04, Vol.44 (4), p.264-268

2007

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Disfluency: it is not always stuttering

Clinical genetics, 2014-03, Vol.85 (3), p.298-299

2014

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Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith–Wiedemann syndrome

International journal of pediatric otorhinolaryngology, 2010-03, Vol.74 (3), p.309-318

2010

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The diagnosis of skeletal dysplasias: a multidisciplinary approach

European journal of radiology, 2001-12, Vol.40 (3), p.161-167

Mortier, Geert R

2001

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Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Nature genetics, 2001-08, Vol.28 (4), p.393-396

2001

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Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)

Human molecular genetics, 2002-04, Vol.11 (7), p.853-860

2002

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Cranial suture biology and dental development: genetic and clinical perspectives

Journal of oral pathology & medicine, 2007-09, Vol.36 (8), p.447-455

2007

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Whole body MR imaging in neurofibromatosis type 1

European journal of radiology, 2009-02, Vol.69 (2), p.236-242

2009

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Preconceptional care: a systematic review of the current situation and recommendations for the future

Facts, views & vision in ObGyn, 2013-01, Vol.5 (1), p.13-25

2013

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PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

Journal of medical genetics, 2004-11, Vol.41 (11), p.e117-e117

2004

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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

American journal of human genetics, 1998-02, Vol.62 (2), p.311-319

1998

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Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Journal of medical genetics, 2000-04, Vol.37 (4), p.263-271

2000

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Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

Journal of medical genetics, 2003-03, Vol.40 (3), p.201-207

2003

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Report of second case and clinical and molecular characterization of Eiken syndrome

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

The annual incidence of DiGeorge/velocardiofacial syndrome

1213 A Boy with Hyperkalemia and Hypertension without Family History: Still Pseudohypoaldesteronism (Gordon Syndrome)?

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

6C.01: CULLIN-3 MUTATIONS LEADING TO SKIPPING OF EXON 9 ARE RESPONSIBLE FOR SEVERE CASES OF FAMILIAL HYPERKALAEMIC HYPERTENSION

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

Disfluency: it is not always stuttering

Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith–Wiedemann syndrome

The diagnosis of skeletal dysplasias: a multidisciplinary approach

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)

Cranial suture biology and dental development: genetic and clinical perspectives

Whole body MR imaging in neurofibromatosis type 1

Preconceptional care: a systematic review of the current situation and recommendations for the future

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

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