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Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy.
Published in:
2005
By:
- Hobson, Emma E.;
- Thomas, Sumesh;
- Crofton, Patricia M.;
- Murray, Alison D.;
- Dean, John C. S.;
- Lloyd, David
Publication type:
journal article
Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression.
Published in:
Clinical Genetics, 1993, v. 44, n. 6, p. 287, doi. 10.1111/j.1399-0004.1993.tb03902.x
By:
- Dean, John C. S.;
- Gray, E. S.;
- Stewart, K. N.;
- Brown, T.;
- Lloyd, D. J.;
- Smith, N. C.;
- Pope, F. M.
Publication type:
Article
ISOLATED HYPOGONADOTROPHIC HYPOGONADISM: A FAMILY WITH AUTOSOMAL DOMINANT INHERITANCE.
Published in:
Clinical Endocrinology, 1990, v. 32, n. 3, p. 341, doi. 10.1111/j.1365-2265.1990.tb00875.x
By:
- DEAN, JOHN C. S.;
- JOHNSTON, ALAN W.;
- KLOPPER, ARNOLD I.
Publication type:
Article
Marfan syndrome: clinical diagnosis and management.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 7, p. 724, doi. 10.1038/sj.ejhg.5201851
By:
- Dean, John C S
Publication type:
Article
Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis.
Published in:
Cancer (0008543X), 1996, v. 77, n. 5, p. 972, doi. 10.1002/(SICI)1097-0142(19960301)77:5<972::AID-CNCR25>3.0.CO;2-#
By:
- de Silva, Deepthi C.;
- Wright, Morag F.;
- Stevenson, David A. J.;
- Clark, Caroline;
- Gray, Elizabeth S.;
- Holmes, John D.;
- Dean, John C. S.;
- Haites, Neva E.;
- Dunlop, Malcolm G.
Publication type:
Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Published in:
JAMA Neurology, 2017, v. 74, n. 6, p. 686, doi. 10.1001/jamaneurol.2016.4357
By:
- Sommerville, Ewen W.;
- Yi Shiau Ng;
- Alston, Charlotte L.;
- Dallabona, Cristina;
- Gilberti, Micol;
- Langping He;
- Knowles, Charlotte;
- Chin, Sophie L.;
- Schaefer, Andrew M.;
- Falkous, Gavin;
- Murdoch, David;
- Longman, Cheryl;
- de Visser, Marianne;
- Bindoff, Laurence A.;
- Rawles, John M.;
- Dean, John C. S.;
- Petty, Richard K.;
- Farrugia, Maria E.;
- Haack, Tobias B.;
- Prokisch, Holger
Publication type:
Article
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2045, doi. 10.1093/brain/awm135
By:
- Rikke K. J. Olsen;
- Simon E. Olpin;
- Brage S. Andresen;
- Zofia H. Miedzybrodzka;
- Morteza Pourfarzam;
- Begoña Merinero;
- Frank E. Frerman;
- Michael W. Beresford;
- John C. S. Dean;
- Nanna Cornelius;
- Oluf Andersen;
- Anders Oldfors;
- Elisabeth Holme;
- Niels Gregersen;
- Douglass M. Turnbull;
- Andrew A. M. Morris
Publication type:
Article

Found: 7

Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy.

Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression.

ISOLATED HYPOGONADOTROPHIC HYPOGONADISM: A FAMILY WITH AUTOSOMAL DOMINANT INHERITANCE.

Marfan syndrome: clinical diagnosis and management.

Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis.

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.