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Randomised trial of population‐based BRCA testing in Ashkenazi Jews: long‐term outcomes

BJOG : an international journal of obstetrics and gynaecology, 2020-02, Vol.127 (3), p.364-375

2020

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Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

Frontiers in genetics, 2023, Vol.14, p.1136339-1136339

2023

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Attitude towards and factors affecting uptake of population‐based BRCA testing in the Ashkenazi Jewish population: a cohort study

BJOG : an international journal of obstetrics and gynaecology, 2019-05, Vol.126 (6), p.784-794

2019

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Jewish cultural and religious factors and uptake of population‐based BRCA testing across denominations: a cohort study

BJOG : an international journal of obstetrics and gynaecology, 2022-05, Vol.129 (6), p.959-968

2022

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Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

Journal of medical genetics, 2002-07, Vol.39 (7), p.478-483

2002

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Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.698-707

2020

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Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene

Human genetics, 2001-06, Vol.108 (6), p.546-551

2001

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Phenotypic spectrum associated with de novo mutations in QRICH1 gene

Clinical genetics, 2018-02, Vol.93 (2), p.286-292

2018

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Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

American journal of human genetics, 2000-07, Vol.67 (1), p.197-202

2000

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Speeding and maxillofacial injuries: Impact of the introduction of penalty points for speeding offences

British journal of oral & maxillofacial surgery, 2006-02, Vol.44 (1), p.15-19

2006

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Mapping a gene for Noonan syndrome to the long arm of chromosome 12

Nature genetics, 1994-12, Vol.8 (4), p.357-360

1994

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Donor site morbidity of the anterior iliac crest following cancellous bone harvest

International journal of oral and maxillofacial surgery, 1996-08, Vol.25 (4), p.268-271

1996

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Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation

Journal of medical genetics, 1998-03, Vol.35 (3), p.222-224

1998

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Cervical spine injuries in patients with facial fractures: a 1-year prospective study

International journal of oral and maxillofacial surgery, 1995-02, Vol.24 (1), p.26-29

1995

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The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with noonan's syndrome

The journal of clinical endocrinology and metabolism, 1996-06, Vol.81 (6), p.2291-2297

1996

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Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12

Journal of medical genetics, 1999-12, Vol.36 (12), p.939-941

1999

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A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

Human molecular genetics, 2009-09, Vol.18 (17), p.3257-3265

2009

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How do we know if managed realignment for coastal habitat compensation is successful? Insights from the implementation of the EU Birds and Habitats Directive in England

Ocean & coastal management, 2017-07, Vol.143, p.164-174

2017

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Case Study of a New Student Engineering Education Research Group

2024 IEEE Global Engineering Education Conference (EDUCON), 2024, p.1-5

2024

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Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)--evidence for possible autosomal recessive inheritance

Clinical dysmorphology, 1997-10, Vol.6 (4), p.329-336

1997

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Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism

Clinical genetics, 2000-08, Vol.58 (2), p.142-146

2000

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Orofacial odontogenic infections

Annals of internal medicine, 1978-03, Vol.88 (3), p.392

1978

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Novel mutation in PANK2 associated with retinal telangiectasis

British journal of ophthalmology, 2011-01, Vol.95 (1), p.149-150

2011

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Randomised trial of population‐based BRCA testing in Ashkenazi Jews: long‐term outcomes

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

Attitude towards and factors affecting uptake of population‐based BRCA testing in the Ashkenazi Jewish population: a cohort study

Jewish cultural and religious factors and uptake of population‐based BRCA testing across denominations: a cohort study

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene

Phenotypic spectrum associated with de novo mutations in QRICH1 gene

Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

Speeding and maxillofacial injuries: Impact of the introduction of penalty points for speeding offences

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

Donor site morbidity of the anterior iliac crest following cancellous bone harvest

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation

Cervical spine injuries in patients with facial fractures: a 1-year prospective study

The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with noonan's syndrome

Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

How do we know if managed realignment for coastal habitat compensation is successful? Insights from the implementation of the EU Birds and Habitats Directive in England

Case Study of a New Student Engineering Education Research Group

Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)--evidence for possible autosomal recessive inheritance

Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism

Orofacial odontogenic infections

Novel mutation in PANK2 associated with retinal telangiectasis

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