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Wyszukujesz frazę ""Myers CT"" wg kryterium: Autor


Wyświetlanie 1-10 z 10
Tytuł:
The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
Autorzy:
Poskanzer SA; School of Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Biochemical Genetics, Seattle Children's Hospital, Seattle, WA, USA.
Thies J; Biochemical Genetics, Seattle Children's Hospital, Seattle, WA, USA.
Collins CJ; Seattle Children's Research Institute, Seattle, WA, USA.
Myers CT; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA.
Dayuha R; Seattle Children's Research Institute, Seattle, WA, USA.
Duong P; Seattle Children's Research Institute, Seattle, WA, USA.
Yi F; Seattle Children's Research Institute, Seattle, WA, USA.
Chang IJ; School of Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Biochemical Genetics, Seattle Children's Hospital, Seattle, WA, USA.; Seattle Children's Research Institute, Seattle, WA, USA.
Ochs HD; School of Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Seattle Children's Research Institute, Seattle, WA, USA.
Torgerson TR; School of Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Seattle Children's Research Institute, Seattle, WA, USA.
Hahn SH; School of Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Biochemical Genetics, Seattle Children's Hospital, Seattle, WA, USA.; Seattle Children's Research Institute, Seattle, WA, USA.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Apr; Vol. 8 (4), pp. e1172. Date of Electronic Publication: 2020 Feb 17.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Proteolysis*
Agammaglobulinemia/*blood
Dried Blood Spot Testing/*methods
Genetic Diseases, X-Linked/*blood
Hepatolenticular Degeneration/*blood
Peptides/*blood
Adolescent ; Adult ; Agammaglobulinemia/complications ; Agammaglobulinemia/diagnosis ; Biomarkers/blood ; Child ; Female ; Genetic Diseases, X-Linked/complications ; Genetic Diseases, X-Linked/diagnosis ; Hepatolenticular Degeneration/complications ; Hepatolenticular Degeneration/diagnosis ; Humans ; Immunologic Tests/methods ; Male ; Mass Spectrometry/methods ; Pedigree
SCR Disease Name:
Bruton type agammaglobulinemia
Czasopismo naukowe
Tytuł:
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Autorzy:
Djémié T; Neurogenetics groupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium.
Weckhuysen S; Neurogenetics groupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium; Sorbonne universitésUPMC université Paris 0691-105boulevard de l'HôpitalParis75013France; ICM, CNRS UMR 7225, Inserm U 112747/83, boulevard de l'HôpitalParis75013France; Centre de reference épilepsies raresEpilepsy unit, AP-HP Groupe hospitalier Pitié-SalpêtrièreParis75013France.
von Spiczak S; Department of Neuropediatrics University Medical Center Schleswig-Holstein Kiel Germany.
Carvill GL; Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington 98195 USA.
Jaehn J; Department of Neuropediatrics University Medical Center Schleswig-Holstein Kiel Germany.
Anttonen AK; Folkhälsan Institute of GeneticsHelsinkiFinland; Medical and Clinical GeneticsUniversity of HelsinkiHelsinkiFinland; Helsinki University HospitalHelsinkiFinland.
Brilstra E; Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands.
Caglayan HS; Department of Molecular Biology and Genetics Bogaziçi University Istanbul Turkey.
de Kovel CG; Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands.
Depienne C; Sorbonne universitésUPMC université Paris 0691-105boulevard de l'HôpitalParis75013France; ICM, CNRS UMR 7225, Inserm U 112747/83, boulevard de l'HôpitalParis75013France; Département de génétiqueAP-HP, hôpital Pitié-Salpêtrière47/83boulevard de l'HôpitalParis75013France.
Gaily E; Department of Pediatric Neurology Helsinki University Hospital Helsinki Finland.
Gennaro E; Laboratory of Genetics E.O. Ospedali Galliera Genova Italy.
Giraldez BG; Neurology Laboratory and Epilepsy UnitDepartment of NeurologyInstituto de Investigatión Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de MadridMadridSpain; IIS-Fundación Jiménez Díaz and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)MadridSpain.
Gormley P; Psychiatric and Neurodevelopmental Genetics UnitMassachusetts General Hospital and Harvard Medical SchoolBostonMassachusetts02114USA; Program in Medical and Population GeneticsBroad Institute of MIT and HarvardCambridgeMassachusetts02142USA; Stanley Center for Psychiatric ResearchBroad Institute of MIT and HarvardCambridgeMassachusetts02142USA; Wellcome Trust Sanger InstituteHinxtonUnited Kingdom.
Guerrero-López R; IIS-Fundación Jiménez Díaz and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Madrid Spain.
Guerrini R; Pediatric Neurology and Neurogenetics Unit and Laboratories A. Meyer Children's Hospital-University of Florence Florence Italy.
Hämäläinen E; Wellcome Trust Sanger InstituteHinxtonUnited Kingdom; Institute for Molecular Medicine Finland FIMMUniversity of HelsinkiHelsinkiFinland.
Hartmann C; Department of Neuropediatrics University Medical Center Schleswig-Holstein Kiel Germany.
Hernandez-Hernandez L; Department of Clinical and Experimental EpilepsyNIHR University College London Hospitals Biomedical Research CentreUCL Institute of NeurologyLondonUnited Kingdom; The Epilepsy SocietyChalfont-St-PeterBucksUnited Kingdom.
Hjalgrim H; Department of NeurologyDanish Epilepsy CentreDianalundDenmark; Institute for Regional Health researchUniversity of Southern DenmarkOdenseDenmark.
Koeleman BP; Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands.
Leguern E; Sorbonne universitésUPMC université Paris 0691-105boulevard de l'HôpitalParis75013France; ICM, CNRS UMR 7225, Inserm U 112747/83, boulevard de l'HôpitalParis75013France; Département de génétiqueAP-HP, hôpital Pitié-Salpêtrière47/83boulevard de l'HôpitalParis75013France.
Lehesjoki AE; Folkhälsan Institute of GeneticsHelsinkiFinland; Research Programs UnitMolecular NeurologyUniversity of HelsinkiHelsinkiFinland.
Lemke JR; Institute of Human Genetics University of Leipzig Leipzig Germany.
Leu C; Department of Clinical and Experimental Epilepsy NIHR University College London Hospitals Biomedical Research Centre UCL Institute of Neurology London United Kingdom.
Marini C; Pediatric Neurology and Neurogenetics Unit and Laboratories A. Meyer Children's Hospital-University of Florence Florence Italy.
McMahon JM; Epilepsy Research Centre Department of Medicine University of Melbourne Austin Health Melbourne Australia.
Mei D; Pediatric Neurology and Neurogenetics Unit and Laboratories A. Meyer Children's Hospital-University of Florence Florence Italy.
Møller RS; Department of NeurologyDanish Epilepsy CentreDianalundDenmark; Institute for Regional Health researchUniversity of Southern DenmarkOdenseDenmark.
Muhle H; Department of Neuropediatrics University Medical Center Schleswig-Holstein Kiel Germany.
Myers CT; Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington 98195 USA.
Nava C; Sorbonne universitésUPMC université Paris 0691-105boulevard de l'HôpitalParis75013France; ICM, CNRS UMR 7225, Inserm U 112747/83, boulevard de l'HôpitalParis75013France; Département de génétiqueAP-HP, hôpital Pitié-Salpêtrière47/83boulevard de l'HôpitalParis75013France.
Serratosa JM; Neurology Laboratory and Epilepsy UnitDepartment of NeurologyInstituto de Investigatión Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de MadridMadridSpain; IIS-Fundación Jiménez Díaz and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)MadridSpain.
Sisodiya SM; Department of Clinical and Experimental EpilepsyNIHR University College London Hospitals Biomedical Research CentreUCL Institute of NeurologyLondonUnited Kingdom; The Epilepsy SocietyChalfont-St-PeterBucksUnited Kingdom.
Stephani U; Department of Neuropediatrics University Medical Center Schleswig-Holstein Kiel Germany.
Striano P; Pediatric Neurology and Muscular Diseases Unit Department of Neurosciences Rehabilitation Ophthalmology Genetics and Maternal and Child Health University of Genoa 'G. Gaslini' Institute Genova Italy.
van Kempen MJ; Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands.
Verbeek NE; Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands.
Usluer S; Department of Molecular Biology and Genetics Bogaziçi University Istanbul Turkey.
Zara F; Laboratory of Neurogenetics Department of Neurosciences Giannina Gaslini Institute Genova Italy.
Palotie A; Program in Medical and Population GeneticsBroad Institute of MIT and HarvardCambridgeMassachusetts02142USA; Institute for Molecular Medicine Finland FIMMUniversity of HelsinkiHelsinkiFinland.
Mefford HC; Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington 98195 USA.
Scheffer IE; Epilepsy Research CentreDepartment of MedicineUniversity of MelbourneAustin HealthMelbourneAustralia; Department of PaediatricsUniversity of Melbourne and Royal Children's HospitalParkvilleVictoria3052Australia; Florey Institute of Neuroscience and Mental HealthMelbourneVictoria3084Australia.
De Jonghe P; Neurogenetics groupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium; Division of NeurologyAntwerp University HospitalAntwerpBelgium.
Helbig I; Department of NeuropediatricsUniversity Medical Center Schleswig-HolsteinKielGermany; Division of NeurologyChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUSA.
Suls A; Neurogenetics groupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium; GENOMEDCenter for Medical GeneticsUniversity of AntwerpAntwerpBelgium.
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Corporate Authors:
EuroEPINOMICS‐RES Dravet working group
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2016 Apr 14; Vol. 4 (4), pp. 457-64. Date of Electronic Publication: 2016 Apr 14 (Print Publication: 2016).
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Advancing epilepsy genetics in the genomic era.
Autorzy:
Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA.
Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA. .
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Źródło:
Genome medicine [Genome Med] 2015 Aug 25; Vol. 7, pp. 91. Date of Electronic Publication: 2015 Aug 25.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms:
Epilepsy/*genetics
DNA Copy Number Variations ; Genome-Wide Association Study ; Genomics ; Humans ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł:
Cyclic nucleotide gated channels 7 and 8 are essential for male reproductive fertility.
Autorzy:
Tunc-Ozdemir M; Department of Biochemistry, University of Nevada, Reno, Nevada, United States of America.
Rato C
Brown E
Rogers S
Mooneyham A
Frietsch S
Myers CT
Poulsen LR
Malhó R
Harper JF
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Źródło:
PloS one [PLoS One] 2013; Vol. 8 (2), pp. e55277. Date of Electronic Publication: 2013 Feb 12.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Arabidopsis/*physiology
Arabidopsis Proteins/*metabolism
Cyclic Nucleotide-Gated Cation Channels/*metabolism
Arabidopsis/cytology ; Arabidopsis/genetics ; Arabidopsis/metabolism ; Arabidopsis Proteins/genetics ; Cell Membrane/metabolism ; Cyclic Nucleotide-Gated Cation Channels/genetics ; Gene Expression Regulation, Plant ; Gene Knockout Techniques ; Germination ; Mutation ; Pollen/cytology ; Pollen/genetics ; Pollen/metabolism ; Pollen/physiology ; Protein Transport ; Reproduction
Czasopismo naukowe
Tytuł:
Factors influencing physical therapists' involvement in preschool transitions.
Autorzy:
Myers CT; Department of Occupational Therapy, Eastern Kentucky University, 103 Dizney, 521 Lancaster Ave, Richmond, KY 40475, USA. christine.myers@eku.edu
Effgen SK
Blanchard E
Southall A
Wells S
Miller E
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Źródło:
Physical therapy [Phys Ther] 2011 May; Vol. 91 (5), pp. 656-64. Date of Electronic Publication: 2011 Mar 17.
Typ publikacji:
Journal Article
MeSH Terms:
Early Intervention, Educational*
Mainstreaming, Education*
Physical Therapy Specialty*
Professional Role*
Disabled Children/*rehabilitation
Attitude of Health Personnel ; Child, Preschool ; Cross-Sectional Studies ; Education, Special ; Factor Analysis, Statistical ; Female ; Humans ; Male ; Middle Aged ; Reproducibility of Results ; Surveys and Questionnaires ; United States
Czasopismo naukowe
Tytuł:
Adherence to balance tolerance limits at the Upper Mississippi Science Center, La Crosse, Wisconsin.
Autorzy:
Myers CT; Upper Mississippi Science Center, U.S. Geological Survey, Biological Resources Division, La Crosse, WI 54602, USA.
Kennedy DM
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Źródło:
Quality assurance (San Diego, Calif.) [Qual Assur] 1998 Jan-Mar; Vol. 6 (1), pp. 45-52.
Typ publikacji:
Journal Article
MeSH Terms:
Weights and Measures/*standards
Academies and Institutes ; Bias ; Calibration ; Quality Control ; Reference Standards ; Wisconsin
Czasopismo naukowe
    Wyświetlanie 1-10 z 10

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