Search details
1.
Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.
Circulation
; 146(23): 1758-1778, 2022 12 06.
Article
in English
| MEDLINE | ID: mdl-36259389
2.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 23(12): 2415-2425, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34400813
3.
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
Am J Med Genet A
; 185(10): 2941-2950, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34089223
4.
Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.
Eur J Neurol
; 28(12): 4010-4021, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34342072
5.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 24(4): 967, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35394429
6.
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Nat Genet
; 36(11): 1159-61, 2004 Nov.
Article
in English
| MEDLINE | ID: mdl-15475955
7.
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Hum Genet
; 131(11): 1761-73, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22773132
8.
Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.
Am J Med Genet A
; 155A(3): 508-18, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21344641
9.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Hum Mutat
; 31(10): 1142-54, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20672375
10.
The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients.
J Neuromuscul Dis
; 4(3): 183-188, 2017.
Article
in English
| MEDLINE | ID: mdl-28800337
11.
The spectrum of WRN mutations in Werner syndrome patients.
Hum Mutat
; 27(6): 558-67, 2006 Jun.
Article
in English
| MEDLINE | ID: mdl-16673358
12.
The New Zealand Neuromuscular Disease Registry: rate of diagnoses confirmed by molecular testing.
J Clin Neurosci
; 22(2): 434-6, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25443090
13.
Three families with Perry syndrome from distinct parts of the world.
Parkinsonism Relat Disord
; 20(8): 884-8, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24881494
14.
The New Zealand Neuromuscular Disease Registry.
J Clin Neurosci
; 19(12): 1749-50, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-22999565
15.
Familial hypercholesterolaemia: a model of care for Australasia.
Atheroscler Suppl
; 12(2): 221-63, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21917530
16.
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Nat Genet
; 42(6): 483-5, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20436468
17.
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.
Eur J Hum Genet
; 17(9): 1112-20, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19277064
18.
Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant.
Pediatrics
; 120(5): e1350-4, 2007 Nov.
Article
in English
| MEDLINE | ID: mdl-17974727
19.
Myotonic dystrophy in Otago, New Zealand.
N Z Med J
; 119(1241): U2145, 2006 Sep 08.
Article
in English
| MEDLINE | ID: mdl-16964297
20.
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
Am J Hum Genet
; 78(6): 999-1010, 2006 Jun.
Article
in English
| MEDLINE | ID: mdl-16685650