J. McGill

发表

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study

J. Fletcher, A. Boneh, P. Joy, 2007, The Lancet.

syndrome resulting from DNA deletion . Clinical features in 27 patients with Angelman

E. Haan, A. Smith, R. Trent, 2004 .

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

E. Haan, A. Smith, R. Trent, 1996, Journal of medical genetics.

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

S. Dimauro, H. Mountain, H. Dahl, 1999, Journal of Inherited Metabolic Disease.

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.

D. Bick, C. Curry, D. Schorderet, 1989, American journal of medical genetics.

Distinct phenotype in maternal uniparental disomy of chromosome 14.

G. Chenevix-Trench, S. Healey, J. McGill, 1994, American journal of medical genetics.

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

M. Brown, S. Robertson, G. Mortier, 2012, American journal of human genetics.

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

H. van Bokhoven, C. Rosenberg, K. Szuhai, 2010, Clinical genetics.

The molecular basis of cystathionine β‐synthase deficiency in Australian patients: Genotype–phenotype correlations and response to treatment

J. Fletcher, M. Gaustadnes, J. Kraus, 2002, Human mutation.

Erratum: Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB

M. Brown, S. Robertson, G. Mortier, 2014 .

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

D. Coman, A. Selvanathan, Aoife Elliott, 2022, JIMD Reports.

Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families

M. Lynch, H. Dahl, J. McGill, 2001, Human mutation.

Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1‐fetoprotein normalization

P. Lewindon, L. Ee, C. Noble, 2022, Pediatric transplantation.

Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.

N. Twine, J. Ungerer, Denis C. Bauer, 2023, Clinical chemistry.

Neuropathology in glutaric acidaemia type 1

D. Danks, B. Kleinschmidt-DeMasters, Anderson Rm, 2004, Acta Neuropathologica.

Histopathology and fibrillin‐1 distribution in severe early onset Marfan syndrome

L. Adès, C. Whight, M. Nataatmadja, 2005, American journal of medical genetics. Part A.

Silver Toxicity in an Infant of Strict Vegan Parents

P. Lewindon, J. Wilcox, J. McGill, 2001, Journal of pediatric gastroenterology and nutrition.

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Robert A. Matousek, T. Cole, C. Hendriksz, 2017, Molecular genetics and metabolism.