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Wyszukujesz frazę ""Dean, John C. S."" wg kryterium: Autor


Tytuł :
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Autorzy :
Olsen, Rikke K J
Olpin, Simon E
Andresen, Brage S
Miedzybrodzka, Zofia H
Pourfarzam, Morteza
Merinero, Begoña
Frerman, Frank E
Beresford, Michael W
Dean, John C S
Cornelius, Nanna
Andersen, Oluf
Oldfors, Anders
Holme, Elisabeth
Gregersen, Niels
Turnbull, Douglass M
Morris, Andrew A M
Pokaż więcej
Temat :
food and beverages
Fatty Acids
Mitochondrial Myopathies
Oxidoreductases Acting on CH-NH Group Donors
Brain Diseases, Metabolic
Metabolism, Inborn Errors
Acyl-CoA Dehydrogenase
Mutation
Electron Transport
Muscle, Skeletal
Adolescent
Carnitine
Electron-Transferring Flavoproteins
Oxidation-Reduction
Adult
Female
Mitochondria, Muscle
Humans
Child, Preschool
Male
Riboflavin
Child
Iron-Sulfur Proteins
Źródło :
Olsen, R K J, Olpin, S E, Andresen, B S, Miedzybrodzka, Z H, Pourfarzam, M, Merinero, B, Frerman, F E, Beresford, M W, Dean, J C S, Cornelius, N, Andersen, O, Oldfors, A, Holme, E, Gregersen, N, Turnbull, D M & Morris, A A M 2007, ' ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. ', Brain, vol. 130, no. Pt 8, pp. 2045-54 . https://doi.org/10.1093/brain/awm135
Tytuł :
Withdrawn: Opitz oculo-genito-laryngeal syndrome: a rare cause of recurrent aspiration pneumonia in an adult.
Autorzy :
de Silva, Deepthi
Osborne, Aileen
Simpson, Sheila A.
Dean, John C. S.
Seaton, Anthony
de Silva, D
Osborne, A
Simpson, S A
Dean, J C
Seaton, A
Pokaż więcej
Temat :
CHROMOSOMES
COMPULSIVE behavior
CORNEA diseases
CRANIOFACIAL dysostosis
GENEALOGY
GENETICS
GENETIC techniques
HYPOSPADIAS
LARYNGEAL diseases
PERSONALITY disorders
SYNDROMES
IMPERFORATE anus
Źródło :
Thorax; Feb1998, Vol. 53 Issue 2, p149-150, 2p, 1 Black and White Photograph, 1 Diagram
Czasopismo naukowe
Tytuł :
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Autorzy :
Olsen RK; The Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark. />Olpin SE
Andresen BS
Miedzybrodzka ZH
Pourfarzam M
Merinero B
Frerman FE
Beresford MW
Dean JC
Cornelius N
Andersen O
Oldfors A
Holme E
Gregersen N
Turnbull DM
Morris AA
Pokaż więcej
Źródło :
Brain : a journal of neurology [Brain] 2007 Aug; Vol. 130 (Pt 8), pp. 2045-54. Date of Electronic Publication: 2007 Jun 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Acyl-CoA Dehydrogenase/*deficiency
Electron-Transferring Flavoproteins/*genetics
Iron-Sulfur Proteins/*genetics
Mitochondrial Myopathies/*genetics
Oxidoreductases Acting on CH-NH Group Donors/*genetics
Riboflavin/*therapeutic use
Adolescent ; Adult ; Brain Diseases, Metabolic/enzymology ; Brain Diseases, Metabolic/genetics ; Carnitine/analogs & derivatives ; Carnitine/blood ; Child ; Child, Preschool ; Electron Transport/physiology ; Fatty Acids/metabolism ; Female ; Humans ; Male ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/metabolism ; Metabolism, Inborn Errors/pathology ; Mitochondria, Muscle/metabolism ; Mitochondrial Myopathies/drug therapy ; Mitochondrial Myopathies/metabolism ; Mitochondrial Myopathies/pathology ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Oxidation-Reduction
Czasopismo naukowe
Tytuł :
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.
Autorzy :
Moore SJ; Clinical Epidemiology Unit, Memorial University, St John's, Newfoundland, Canada.
Green JS
Fan Y
Bhogal AK
Dicks E
Fernandez BA
Stefanelli M
Murphy C
Cramer BC
Dean JC
Beales PL
Katsanis N
Bassett AS
Davidson WS
Parfrey PS
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2005 Feb 01; Vol. 132A (4), pp. 352-60.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Bardet-Biedl Syndrome/*pathology
Adolescent ; Adult ; Aged ; Bardet-Biedl Syndrome/epidemiology ; Bardet-Biedl Syndrome/genetics ; Child ; Child, Preschool ; Cohort Studies ; Female ; Genotype ; Group II Chaperonins ; Humans ; Infant ; Male ; Microtubule-Associated Proteins ; Middle Aged ; Molecular Chaperones/genetics ; Mutation ; Newfoundland and Labrador/epidemiology ; Pedigree ; Phenotype ; Prevalence ; Proteins/genetics ; Time Factors
Czasopismo naukowe
Tytuł :
Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome--variable manifestations of a single disorder?
Autorzy :
Rasalam AD
Dean JC
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2005 Jan 15; Vol. 132A (2), pp. 209.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Cardiovascular Abnormalities*
Abnormalities, Multiple/*pathology
Craniosynostoses/*pathology
Constipation/pathology ; Developmental Disabilities/pathology ; Diagnosis, Differential ; Growth Disorders/pathology ; Humans ; Infant ; Kidney/abnormalities ; Male ; Syndrome
Raport
Tytuł :
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
Autorzy :
Ion A; Department of Medical Genetics, St. George's Medical School, Cranmer Terrace, London SW17ORE, UK.
Tartaglia M
Song X
Kalidas K
van der Burgt I
Shaw AC
Ming JE
Zampino G
Zackai EH
Dean JC
Somer M
Parenti G
Crosby AH
Patton MA
Gelb BD
Jeffery S
Pokaż więcej
Źródło :
Human genetics [Hum Genet] 2002 Oct; Vol. 111 (4-5), pp. 421-7. Date of Electronic Publication: 2002 Aug 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review
MeSH Terms :
Mutation, Missense*
Abnormalities, Multiple/*genetics
Face/*abnormalities
Heart Defects, Congenital/*genetics
Skin Abnormalities/*genetics
Base Sequence ; DNA Primers ; Humans ; Noonan Syndrome/genetics ; Syndrome
Czasopismo naukowe

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