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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Human mutation, 2019-03, Vol.40 (3), p.267-280, Article humu.23694

2019

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Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Molecular genetics and metabolism, 2018-06, Vol.124 (2), p.124-130

2018

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Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

European journal of pediatrics, 2015-05, Vol.174 (5), p.661-668

2015

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A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity

Journal of molecular neuroscience, 2020, Vol.70 (1), p.45-55

2020

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The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics

Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.529-536

2011

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Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis

Journal of pediatric hematology/oncology, 2008-08, Vol.30 (8), p.621-624

2008

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An early single institutional experience in sutureless total thyroidectomy

Medical journal of Malaysia, 2012-04, Vol.67 (2), p.177-180

2012

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ER, p53 and MIB-1 are significantly associated with malignant phyllodes tumor

Biomedical journal, 2012-11, Vol.35 (6), p.486

2012

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cagA gene variants in Malaysian Helicobacter pylori strains isolated from patients of different ethnic groups

FEMS immunology and medical microbiology, 2005-05, Vol.44 (2), p.239-242

2005

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Effect of interpregnancy interval on risk of spontaneous preterm birth in Emirati women, United Arab Emirates

Bulletin of the World Health Organization, 2002-01, Vol.80 (11), p.871-875

2002

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Massive Dissecting Intramural Duodenal Haematoma Following Endoscopic Haemostasis of a Bleeding Duodenal Ulcer

Asian journal of surgery, 2006-04, Vol.29 (2), p.98-100

2006

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Initial experience of laparoscopic incisional hernia repair

Medical journal of Malaysia, 2006-06, Vol.61 (2), p.142-146

2006

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Pre-ablative Diagnostic Whole-body Scan Following Total Thyroidectomy for Well-differentiated Thyroid Cancer: Is It Necessary?

Asian journal of surgery, 2005-04, Vol.28 (2), p.90-96

2005

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Thyroid Carcinoma in Patients with Familial Adenomatous Polyposis

Asian journal of surgery, 2003-07, Vol.26 (3), p.183-185

2003

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Malignant Cervical Teratoma in an Adult Presenting with Impending Airway Obstruction

Asian journal of surgery, 2005-07, Vol.28 (3), p.227-229

2005

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Perforated malignant gastric ulcer in a pregnant young adult: a case report

Medical journal of Malaysia, 2000-03, Vol.55 (1), p.135-137

2000

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Pancreatic insulinomas--a study of 15 cases from 1978-98

Medical journal of Malaysia, 2000-06, Vol.55 (2), p.242-245

2000

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The surgical treatment of adrenal diseases

Annals of the Academy of Medicine, Singapore, 1996-03, Vol.25 (2), p.251

1996

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Gangrene of the foot following peripheral phlebography

Journal of the Royal College of Surgeons of Edinburgh, 1991-06, Vol.36 (3), p.180

1991

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Driving cessation and dementia: results of the prospective registry on dementia in Austria (PRODEM)

PloS one, 2012-12, Vol.7 (12), p.e52710-e52710

2012

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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity

The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics

Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis

An early single institutional experience in sutureless total thyroidectomy

ER, p53 and MIB-1 are significantly associated with malignant phyllodes tumor

cagA gene variants in Malaysian Helicobacter pylori strains isolated from patients of different ethnic groups

Effect of interpregnancy interval on risk of spontaneous preterm birth in Emirati women, United Arab Emirates

Massive Dissecting Intramural Duodenal Haematoma Following Endoscopic Haemostasis of a Bleeding Duodenal Ulcer

Initial experience of laparoscopic incisional hernia repair

Pre-ablative Diagnostic Whole-body Scan Following Total Thyroidectomy for Well-differentiated Thyroid Cancer: Is It Necessary?

Thyroid Carcinoma in Patients with Familial Adenomatous Polyposis

Malignant Cervical Teratoma in an Adult Presenting with Impending Airway Obstruction

Perforated malignant gastric ulcer in a pregnant young adult: a case report

Pancreatic insulinomas--a study of 15 cases from 1978-98

The surgical treatment of adrenal diseases

Gangrene of the foot following peripheral phlebography

Driving cessation and dementia: results of the prospective registry on dementia in Austria (PRODEM)

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