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Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Nature genetics, 2011-04, Vol.43 (4), p.356-359

2011

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Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

American journal of human genetics, 2011-04, Vol.88 (4), p.508-515

2011

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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Nature genetics, 2004-04, Vol.36 (4), p.405-410

2004

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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.37-37

2011

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Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype

Neurogenetics, 2013-05, Vol.14 (2), p.113-121

2013

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Molecular consequences of dominant Bethlem myopathy collagen VI mutations

Annals of neurology, 2007-10, Vol.62 (4), p.390-405

2007

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Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de Novo FGFR3 Missense Mutations located in Cis

Sultan Qaboos University medical journal, 2013-02, Vol.13 (1), p.80-87

2013

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Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay

Sultan Qaboos University medical journal, 2013-05, Vol.13 (2), p.306-310

2013

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Clinical Outcomes and Counselling Issues Regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

Sultan Qaboos University medical journal, 2013-05, Vol.13 (2), p.311-317

2013

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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

Nature genetics, 1997-10, Vol.17 (2), p.146-148

1997

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O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

The Journal of biological chemistry, 2018-07, Vol.293 (27), p.10810-10824

2018

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Two Novel COL2A1 Mutations Associated with a Legg-Calvé-Perthes Disease-like Presentation

Clinical orthopaedics and related research, 2011-06, Vol.469 (6), p.1785-1790

2011

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Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Nature genetics, 2011-04, Vol.43 (4), p.303-305

2011

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The Coffin-Lowry Syndrome: A Case Report and Review of the Literature

Journal of obstetrics and gynaecology Canada, 2010-07, Vol.32 (7), p.691-694

2010

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The genetic basis of DOORS syndrome: an exome-sequencing study

Lancet neurology, 2014, Vol.13 (1), p.44-58

2014

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Focal Dermal Hypoplasia Due to a Novel Mutation in a Boy with Klinefelter Syndrome

Pediatric dermatology, 2013-07, Vol.30 (4), p.476-479

2013

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A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

Case reports in pediatrics, 2012-01, Vol.2012 (2012), p.1-7

2012

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Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

Case reports in genetics, 2012-01, Vol.2012 (2012), p.1-4

2012

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FGFR3 mutations and medial temporal lobe dysgenesis

Journal of child neurology, 2007-02, Vol.22 (2), p.211-213

2007

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Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Human mutation, 2012-01, Vol.33 (1), p.64-72

2012

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Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome

Clinical dysmorphology, 2010-10, Vol.19 (4), p.225-226

2010

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Fetal methotrexate/aminopterin syndrome in an adult: a likely case with ectodermal abnormalities

Clinical dysmorphology, 2009-01, Vol.18 (1), p.53-55

Aftimos, Salim

2009

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Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

Case reports in genetics, 2011-01, Vol.2011 (2011), p.1-5

2011

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A newborn with likely Okamoto syndrome

Clinical dysmorphology, 2010-04, Vol.19 (2), p.103-106

2010

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DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.327-332

2014

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Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de Novo FGFR3 Missense Mutations located in Cis

Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay

Clinical Outcomes and Counselling Issues Regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

Two Novel COL2A1 Mutations Associated with a Legg-Calvé-Perthes Disease-like Presentation

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

The Coffin-Lowry Syndrome: A Case Report and Review of the Literature

The genetic basis of DOORS syndrome: an exome-sequencing study

Focal Dermal Hypoplasia Due to a Novel Mutation in a Boy with Klinefelter Syndrome

A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

FGFR3 mutations and medial temporal lobe dysgenesis

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome

Fetal methotrexate/aminopterin syndrome in an adult: a likely case with ectodermal abnormalities

Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

A newborn with likely Okamoto syndrome

DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

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