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Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

PloS one, 2020-02, Vol.15 (2), p.e0228417-e0228417

2020

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Practical approach to managing metabolic bone disease of prematurity in the neonatal unit

Archives of disease in childhood. Education and practice edition, 2024-06, Vol.109 (3), p.143

2024

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Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance

Archives of disease in childhood, 2023-11, Vol.108 (11), p.871

2023

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Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes

The journal of clinical endocrinology and metabolism, 2021-11, Vol.106 (11), p.e4716-e4733

2021

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Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1

Journal of pediatric endocrinology & metabolism : JPEM, 2019-09, Vol.32 (9), p.959

2019

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Fifteen-minute consultation: The child with short stature

Archives of disease in childhood. Education and practice edition, 2015-08, Vol.100 (4), p.180-184

2015

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Period problems: disorders of menstruation in adolescents

Archives of Disease in Childhood, 2012-06, Vol.97 (6), p.554-560

2012

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Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation

European journal of endocrinology, 2018-05, Vol.178 (5), p.481

2018

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Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency

The journal of clinical endocrinology and metabolism, 2009-09, Vol.94 (9), p.3191-3199

2009

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Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3303-3307

2016

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Effect of oxandrolone and timing of pubertal induction on final height in Turner's syndrome: randomised, double blind, placebo controlled trial

BMJ (Online), 2011-04, Vol.342, p.d1980

2011

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IGF-I signalling in bone growth: inhibitory actions of dexamethasone and IL-1beta

Growth hormone & IGF research, 2007-10, Vol.17 (5), p.435-439

2007

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Investigating In Situ Expression of c-MYC and Candidate Ubiquitin-Specific Proteases in DLBCL and Assessment for Peptidyl Disruptor Molecule against c-MYC-USP37 Complex

Molecules (Basel, Switzerland), 2023-03, Vol.28 (6), p.2441

2023

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RAS gene mutations and histomorphometric measurements in oral squamous cell carcinoma

Biotechnic & histochemistry, 2023-08, Vol.98 (6), p.382-390

2023

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Determination of pKa values of new phenacyl-piperidine derivatives by potentiometric titration method in aqueous medium at room temperature (25±0.5oC)

Pakistan journal of pharmaceutical sciences, 2014-07, Vol.27 (4), p.925-929

2014

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Longitudinal growth patterns of Pakistani infants in a clinic based growth promotion program

Indian pediatrics, 2003-11, Vol.40 (11), p.1043-1053

2003

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Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

Practical approach to managing metabolic bone disease of prematurity in the neonatal unit

Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes

Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1

Fifteen-minute consultation: The child with short stature

Period problems: disorders of menstruation in adolescents

Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation

Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency

Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta

Effect of oxandrolone and timing of pubertal induction on final height in Turner's syndrome: randomised, double blind, placebo controlled trial

IGF-I signalling in bone growth: inhibitory actions of dexamethasone and IL-1beta

Investigating In Situ Expression of c-MYC and Candidate Ubiquitin-Specific Proteases in DLBCL and Assessment for Peptidyl Disruptor Molecule against c-MYC-USP37 Complex

RAS gene mutations and histomorphometric measurements in oral squamous cell carcinoma

Determination of pKa values of new phenacyl-piperidine derivatives by potentiometric titration method in aqueous medium at room temperature (25±0.5oC)

Longitudinal growth patterns of Pakistani infants in a clinic based growth promotion program

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