Karen Stals and Cited - Free people check

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A restricted spectrum of missense KMT2D variants cause a ...

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by C Sara · · Cited by 31 — David van Heel, MD PhD20, Santina Venuto, PhD19, Daniel Weisberg, PhD21, Karen Stals, PhD22,. Sian Ellard, FRCPath PhD22,23, ... › openview › 1.pdf

Risk category system to identify pituitary adenoma patients ...

rde.dspace-express.com

by F Caimari · · Cited by 32 — Plamena gabrovska,1 Donato iacovazzo,1 Karen Stals,4 Sian ellard,4 Márta Korbonits,1 on behalf of the international FiPa consortium. › bitstream

hypomorphic allele of SLC35D1 results in Schneckenbecken ...

academic.oup.com

by C Rautengarten · · Cited by 9 — Karen Stals,. Karen Stals. Department of Molecular Genetics. , Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK. › hmg › article-abstract

An unusual case of an ACTH-secreting macroadenoma with a ...

pubmed.ncbi.nlm.nih.gov

by PT Dinesen · · Cited by 12 — Pia T Dinesen , Jakob Dal , Plamena Gabrovska , Mette Gaustadnes , Claus H Gravholt , Karen Stals , Judit Denes , Sylvia L Asa , Márta Korbonits , Jens O L ... by BDE Janssen — Beau D E Janssen , Marie-Jose H van den Boogaard , Klaske Lichtenbelt , Eleanor G Seaby , Karen Stals , Sian Ellard , Ruth Newbury-Ecob ... › ...

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A hypomorphic allele of SLC35D1 results in Europe PMC

europepmc.org

by C Rautengarten · · Cited by 9 — Carsten Rautengarten,1 Oliver W Quarrell,2Karen Stals,3 Richard C Caswell,4 Elisa De Franco,3 Emma Baple,3,4 Nadia Burgess,5 Roobin Jokhi,6 Joshua L ... › article › pmc › pmc

De novo missense variants in FBXO11 alter its protein ...

profiles.wustl.edu

by A Gregor · · Cited by 2 — Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Karen Stals, Caroline Maxton, Johannes R. Lemke, ... › publications › de-novo-miss...

Expanded phenotype of AARS1-related white matter disease

research.vu.nl

by G Helman · · Cited by 4 — Darja Gauck, Theresa A. Grebe, Frances Elmslie, Karen Stals, Rajat Gupta, Enrico Bertini, Isabelle Thiffault, Ryan J. Taft, ... › publications › expanded-phenot...

Landscape of Familial Isolated and Young-Onset Pituitary ...

research.birmingham.ac.uk

by LC Hernández-Ramírez · · Cited by 138 — Laura C Hernández-Ramírez, Plamena Gabrovska, Judit Dénes, Karen Stals, Giampaolo Trivellin, Daniel Tilley, Francesco Ferrau, Jane Evanson, ... › publications › land...

Macrosomia and hyperinsulinaemic hypoglycaemia in Gale

go.gale.com

by ER Pearson · · Cited by 473 — Authors: Ewan R. Pearson, Sylvia F. Boj, Anna M. Steele, Timothy Barrett, Karen Stals and Julian P. Shield. Date: Apr From: PLoS Medicine(Vol. › i.do

SPEN haploinsufficiency causes a neurodevelopmental ...

mayoclinic.pure.elsevier.com

by FC Radio · · Cited by 34 — ... Lyndon Gallacher, Peter D. Turnpenny, Karen Stals, Sian Ellard, Sara Cabet, Gaetan Lesca, Joset Pascal, Katharina Steindl, Sarit Ravid, ... › publications › sp...

Expanded phenotype of AARS1-related white matter disease.

scholarlyexchange.childrensmercy.org

by G Helman · · Cited by 2 — Karen Stals · Rajat Gupta · Enrico Bertini · Isabelle Thiffault, Children's Mercy HospitalFollow · Ryan J. Taft · Raphael Schiffmann · Ulrich Brandl › papers

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