A. Kidd

发表

A Case of Amyoplasia in a Monochorionic Twin Pregnancy: A Sequela from Twin-Twin Transfusion Syndrome?

J. Zuccollo, H. Wong, J. Tait, 2009, Fetal Diagnosis and Therapy.

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

H. Brunner, J. Mulliken, S. Twigg, 2006, American journal of human genetics.

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Christian Gilissen, Alexander Hoischen, Alex Henderson, 2010, Nature Genetics.

Ascertainment of myotonic dystrophy through cataract by selective screening.

N. Haites, P. Turnpenny, J. Dean, 1995, Journal of medical genetics.

Further characterization of ATP 6 V 0 A 2-related autosomal recessive cutis laxa

S. Mundlos, H. Kayserili, M. Kabra, 2012 .

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

S. Mundlos, H. Kayserili, M. Kabra, 2012, Human Genetics.

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

K E Chandler, J. Clayton-Smith, L. Al-Gazali, 2003, Journal of medical genetics.

Residual Ataxia Telangiectasia Mutated Protein Function in Cells from Ataxia Telangiectasia Patients, with 5762ins137 and 7271T→G Mutations, Showing a Less Severe Phenotype*

G. Stewart, P. Byrd, A. Taylor, 2001, The Journal of Biological Chemistry.

Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review

D. Dickson, Z. Wszolek, A. Strongosky, 2021, European journal of neurology.

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation

G. Besley, J. Dean, N. Affara, 2000, Journal of medical genetics.

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

Y. Lau, L. Hudgins, L. Racacho, 2009, European Journal of Human Genetics.

Neonatal Hyperparathyroidism and Pamidronate Therapy in an Extremely Premature Infant

E. Wiltshire, D. Cole, A. Kidd, 2007, Pediatrics.

The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients

G. O'grady, M. Rodrigues, R. Roxburgh, 2017, Journal of neuromuscular diseases.

Occult cancer of the fallopian tube in a BRCA2 germline mutation carrier at prophylactic salpingo-oophorectomy.

A. McEwen, A. Kidd, D. Kenwright, 2004, Gynecologic oncology.

Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour.

A. Hunter, A. Kidd, R. Corbett, 2011, European journal of medical genetics.

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

S. Robertson, D. Goudie, V. Shashi, 2011, American journal of medical genetics. Part A.

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

S. Mundlos, H. Kayserili, M. Kabra, 2012, Human Genetics.

A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma.

N. Haites, J. Dean, A. Kidd, 1996, Journal of medical genetics.

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

N. Rahman, H. Firth, J. Tolmie, 2004, Nature Genetics.

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

D. Easton, D. Easton, T. Stankovic, 1998, American journal of human genetics.

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2

D. Evans, R. de Silva, M. Baser, 2004, Journal of Medical Genetics.

Familial hypercholesterolaemia: a model of care for Australasia.

J. Emery, P. Clifton, G. Watts, 2011, Atherosclerosis. Supplements.

The spectrum of WRN mutations in Werner syndrome patients

Markus Schuelke, Thomas Dorn, Johannes Ring, 2006, Human mutation.

Oral presentationLaparoscopic hysterectomy: The kaiser permanente San Diego experience

R. Burchette, A. Kidd, J. Kennedy, 2003 .

PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy

A. Rötig, S. Lyonnet, J. Amiel, 2018, Archives of Cardiovascular Diseases Supplements.

Genetic testing in New Zealand: the role of the general practitioner.

Sonya Morgan, A. Kidd, D. McLeod, 2004, The New Zealand medical journal.

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

F. Baas, P. van den Munckhof, I. Christiaans, 2010, Journal of Medical Genetics.

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

P. Lockhart, M. Bahlo, E. Janus, 2021, American journal of medical genetics. Part A.

Three families with Perry syndrome from distinct parts of the world.

M. Okun, Z. Wszolek, A. Strongosky, 2014, Parkinsonism & related disorders.

The New Zealand Neuromuscular Disease Registry

Matthew Bellgard, Richard Roxburgh, Rakesh Patel, 2012, Journal of Clinical Neuroscience.

A Case of Thanatophoric Dysplasia: The Early Prenatal 2D and 3D Sonographic Findings and Molecular Confirmation of Diagnosis

J. Zuccollo, H. Wong, J. Tait, 2008, Fetal Diagnosis and Therapy.

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome

E. Haan, M. Delatycki, A. Bankier, 2004, American journal of medical genetics. Part A.

Myotonic dystrophy in Otago, New Zealand.

C. Ford, A. Kidd, G. Hammond-Tooke, 2006, The New Zealand medical journal.

Reproductive counselling for women with myotonic dystrophy

A. Kidd, A. Cobo, A. Hughes, 2002, Journal of medical genetics.

The New Zealand Neuromuscular Disease Registry: Rate of diagnoses confirmed by molecular testing

M. Rodrigues, R. Roxburgh, D. Love, 2015, Journal of Clinical Neuroscience.

Ascertainment ofmyotonic dystrophy through cataractbyselective screening

N. Haites, A. Kidd, K. Kelly, 2011 .