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Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

European journal of human genetics : EJHG, 2018-06, Vol.26 (6), p.796-807

2018

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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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A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay

Seizure (London, England), 2018-03, Vol.56, p.1-3

2018

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Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type

Journal of pediatric orthopaedics. B, 2006-01, Vol.15 (1), p.41-44

2006

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Diagnosis in dysmorphology: clues from the skin

British journal of dermatology (1951), 2004-11, Vol.151 (5), p.953-960

2004

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Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

Journal of medical genetics, 2001-03, Vol.38 (3), p.175-178

2001

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An association of multiple well differentiated liposarcomas, lipomatous tissue and hereditary retinoblastoma

Sarcoma, 2005-01, Vol.2005 (3-4), p.151-156

2005

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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Journal of medical genetics, 2023-05, Vol.60 (5), p.505-510

2023

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Siblings with Bohring-Opitz syndrome

Clinical dysmorphology, 2003-01, Vol.12 (1), p.15-20

2003

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The KBG syndrome

Clinical dysmorphology, 2000-04, Vol.9 (2), p.87-91

2000

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TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1950-1955

2018

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Mild phenotype and spontaneous improvement in a new form of perinatal hypophosphatasia with a novel recessive mutation in the TNSAP gene

Bone (New York, N.Y.), 2009-07, Vol.45, p.S81-S81

2009

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Missense mutations in the 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

Jackson, G C

2004

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Klippel-Trenauney-Weber syndrome associated with hemoptysis

The Annals of thoracic surgery, 2004-05, Vol.77 (5), p.1843-1845

2004

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Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

Journal of medical genetics, 2001, Vol.38 (3), p.175-178

2001

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British Association of Dermatologists guidelines for the management of people with cutaneous squamous cell carcinoma 2020

British journal of dermatology (1951), 2021-03, Vol.184 (3), p.401-414

2021

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Malformation risks of antiepileptic drug monotherapies in pregnancy: updated results from the UK and Ireland Epilepsy and Pregnancy Registers

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (9), p.1029-1034

2014

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It is not how much you crave but what you do with it that counts: behavioural responses to food craving during weight management

European journal of clinical nutrition, 2017-05, Vol.71 (5), p.625-630

2017

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Chronic Pulmonary Artery Pressure Elevation Is Insufficient to Explain Right Heart Failure

Circulation (New York, N.Y.), 2009-11, Vol.120 (20), p.1951-1960

2009

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P7 Familial cryptogenic porto-sinusoidal vascular disease associated with arterial aneurysmal disease

Gut, 2023-09, Vol.72 (Suppl 3), p.A17-A18

2023

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The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

Journal of human genetics, 2021-04, Vol.66 (4), p.371-377

2021

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Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report

BMC medical genetics, 2020-03, Vol.21 (1), p.64-64, Article 64

2020

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Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

American journal of human genetics, 2007-02, Vol.80 (2), p.345-352

2007

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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Nature communications, 2015-09, Vol.6 (1), p.8086-8086, Article 8086

2015

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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

Genome medicine, 2022-07, Vol.14 (1), p.79-11, Article 79

2022

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Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

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

A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay

Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type

Diagnosis in dysmorphology: clues from the skin

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

An association of multiple well differentiated liposarcomas, lipomatous tissue and hereditary retinoblastoma

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Siblings with Bohring-Opitz syndrome

The KBG syndrome

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

Mild phenotype and spontaneous improvement in a new form of perinatal hypophosphatasia with a novel recessive mutation in the TNSAP gene

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

Klippel-Trenauney-Weber syndrome associated with hemoptysis

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

British Association of Dermatologists guidelines for the management of people with cutaneous squamous cell carcinoma 2020

Malformation risks of antiepileptic drug monotherapies in pregnancy: updated results from the UK and Ireland Epilepsy and Pregnancy Registers

It is not how much you crave but what you do with it that counts: behavioural responses to food craving during weight management

Chronic Pulmonary Artery Pressure Elevation Is Insufficient to Explain Right Heart Failure

P7 Familial cryptogenic porto-sinusoidal vascular disease associated with arterial aneurysmal disease

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

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