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Author/Creator Stanescu, Horia

1. A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation. Issue 7 (3rd April 2014)

Authors:
Drury, Suzanne; Boustred, Christopher; Tekman, Mehmet; Stanescu, Horia; Kleta, Robert; Lench, Nicholas; Chitty, Lyn S.; Scott, Richard H.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1777
Record Type:
Journal Article
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2. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Issue 1 (December 2017)

Authors:
Le Quesne Stabej, Polona; James, Chela; Ocaka, Louise; Tekman, Mehmet; Grunewald, Stephanie; Clement, Emma; Stanescu, Horia; Kleta, Robert; Morrogh, Deborah; Calder, Alistair; Williams, Hywel; Bitner-Glindzicz, Maria
Journal:
Orphanet journal of rare diseases
Issue:
Volume 12:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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5. Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). Issue 12 (3rd April 2021)

Authors:
Islam, Sumaya; Tekman, Mehmet; Flanagan, Sarah E.; Guay‐Woodford, Lisa; Hussain, Khalid; Ellard, Sian; Kleta, Robert; Bockenhauer, Detlef; Stanescu, Horia; Iancu, Daniela
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 12(2021)
Page Start:
n/a
Record Type:
Journal Article
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6. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Issue 3 (6th January 2015)

Authors:
Waters, Aoife M; Asfahani, Rowan; Carroll, Paula; Bicknell, Louise; Lescai, Francesco; Bright, Alison; Chanudet, Estelle; Brooks, Anthony; Christou-Savina, Sonja; Osman, Guled; Walsh, Patrick; Bacchelli, Chiara; Chapgier, Ariane; Vernay, Bertrand; Bader, David M; Deshpande, Charu; O' Sullivan, Ma...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 3(2015)
Page Start:
147
Record Type:
Journal Article
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