Catherine S Choong


Ontology type: schema:Person     


Person Info

NAME

Catherine S

SURNAME

Choong

Publications in SciGraph latest 50 shown

  • 2018-12 A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report in INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
  • 2017-12 Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene in INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
  • 2017-06-06 Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma in BRITISH JOURNAL OF CANCER
  • 2016-12 Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort in GENOME BIOLOGY
  • 2016-12 Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2015-12 Follicular thyroid carcinoma in a child presenting as autonomously functioning thyroid nodule in INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
  • 2015-12 Sirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report in INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
  • 2015-12 Autosomal dominant Kenny-Caffey syndrome with congenital hypoparathyroidism, short stature and normal intellect: a case report in INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
  • 2015-12 Response to low dose growth hormone treatment in infants and toddlers with Prader-Willi Syndrome in INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
  • 2014-12 Efficacy of Hydrochlorothiazide and low renal solute feed in Neonatal Central Diabetes Insipidus with transition to Oral Desmopressin in early infancy in INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
  • 2014-10 Germ-line and somatic DICER1 mutations in pineoblastoma in ACTA NEUROPATHOLOGICA
  • 2013-12 Ski-interacting protein (SKIP) interacts with androgen receptor in the nucleus and modulates androgen-dependent transcription in BMC BIOCHEMISTRY
  • 2013-12 DICER1 hotspot mutations in non-epithelial gonadal tumours in BRITISH JOURNAL OF CANCER
  • 2013-11 DICER1 hotspot mutations in non-epithelial gonadal tumours in BRITISH JOURNAL OF CANCER
  • 2007-05 The relationship between ACE genotype and risk of severe hypoglycaemia in a large population-based cohort of children and adolescents with type 1 diabetes in DIABETOLOGIA
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