P. Scott

发表

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

C. Morel, P. Rinaldo, D. Watkins, 2005, Molecular genetics and metabolism.

An intronic mutation in DKC1 in an infant with Høyeraal–Hreidarsson syndrome

A. Al-Eyadhy, S. Bale, S. Abish, 2008, American journal of medical genetics. Part A.

A second ALS patient having an L67P mutation in exon 3 of the Cu/Zn superoxide dismutase gene

C. Krieger, P. Scott, Shelagh Haase, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

M. Demos, N. Blau, P. Waters, 2005, Molecular genetics and metabolism.

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

N. Al-Hashmi, Mohammed Mohammed, P. Scott, 2018, Case reports in genetics.

Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?

F. al-Murshedi, P. Scott, D. Meftah, 2019, European journal of medical genetics.

Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene

Patrick Scott, R. Nandhagopal, Douja Meftah, 2018, European journal of neurology.

Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease.

Z. Bruwer, K. Al-Kharusi, Douja Meftah, 2016, Oman medical journal.

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

A. Rolfs, C. Beetz, L. Abbasi-Moheb, 2019, Journal of Human Genetics.

Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience

K. Al-Thihli, Z. Bruwer, Khalsa Al Kharusi, 2017, Journal of perinatal medicine.

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany

F. Güttler, J. Zschocke, L. Tyfield, 2007, Human mutation.

Spinocerebellar ataxia with axonal neuropathy type 1 revisited

Z. Bruwer, R. Nandhagopal, S. Adawi, 2019, Journal of Clinical Neuroscience.

Newborn screening for cystic fibrosis in Alberta: Two years of experience.

M. Somerville, F. Bamforth, Stacey Hume, 2010, Paediatrics & child health.

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

R. Rozen, C. Morel, E. Christensen, 2005, Molecular genetics and metabolism.

Familial amyotrophic lateral sclerosis in Alberta, Canada

Michael White, S. Kalra, L. Korngut, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.

R. Koul, A. Al-Futaisi, K. Al-Thihli, 2017, Sultan Qaboos University medical journal.

Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: “Mitochondrial angiopathy”

Aneal Khan, H. Sarnat, R. Casey, 2012, Neuropathology : official journal of the Japanese Society of Neuropathology.

Report on the p.Ser489X (p.Ser489*) CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian cystic fibrosis patient population

I. D. Bie, R. Agatep, A. Ruchon, 2012, Genetics in Medicine.

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib

A. Ganesh, Sana Al Zuhaibi, Khalid Al Thihli, 2017, Ophthalmic genetics.

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

P. Bauer, A. Rolfs, C. Beetz, 2019, Journal of Human Genetics.

Defining the Role of Laboratory Genetic Counselor

Stacey Hume, S. Christian, M. Lilley, 2012, Journal of Genetic Counseling.