نتائج البحث - "Lina Quteineh"

المصدر: AM J HUM GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba1707a022519a64f5aad1953051153Test
https://lirias.kuleuven.be/handle/20.500.12942/704570Test

6

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

المؤلفون: Eva Hammar, Nils Guinand, Roxane van Heurck, Corinne Gehrig, Ariane Paoloni-Giacobino, Emmanuelle Ranza, Marc Abramowicz, Michel Guipponi, Lina Quteineh, Maria Teresa Carminho-Rodrigues, Caterina Stafuzza, Pascal Senn, Helene Cao-Van

المصدر: Genes
Volume 12
Issue 8
Genes, Vol. 12, No 8 (2021) P. 1277
Genes, Vol 12, Iss 1277, p 1277 (2021)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a2a9b0b9a7b7c2e0c011608ab9e4a13Test

7

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

المصدر: Oates, S, Absoud, M, Goyal, S, Bayley, S, Baulcomb, J, Sims, A, Riddett, A, Allis, K, Brasch-Andersen, C, Balasubramanian, M, Bai, R, Callewaert, B, Hüffmeier, U, Le Duc, D, Radtke, M, Korff, C, Kennedy, J, Low, K, Møller, R S, Nielsen, J E K, Popp, B, Quteineh, L, Rønde, G, Schönewolf-Greulich, B, Shillington, A, Taylor, M R G, Todd, E, Torring, P M, DMSc, Z T M D P D, Vasileiou, G, Yates, T M, Zweier, C, Rosch, R, Basson, M A & Pal, D K 2021, ' ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder ', Clinical Genetics, vol. 100, no. 4, pp. 412-429 . https://doi.org/10.1111/cge.14023Test

مصطلحات موضوعية: Male, Databases, Factual, Cell Cycle Proteins, Bioinformatics, Epilepsy, 0302 clinical medicine, Neurodevelopmental disorder, antiepileptic drug, Intellectual disability, bromodomain, EEG, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, Electroencephalography, Microdeletion syndrome, Middle Aged, 3. Good health, DNA-Binding Proteins, comorbidity, Phenotype, Child, Preschool, Medical genetics, Epilepsy, Generalized, Female, Co-Repressor Proteins, epigenetic, Adult, medicine.medical_specialty, Adolescent, Genotype, seizure, autism, histone H3.3, 03 medical and health sciences, Young Adult, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Alleles, Genetic Association Studies, 030304 developmental biology, business.industry, Genetic Variation, medicine.disease, Comorbidity, Amino Acid Substitution, Neurodevelopmental Disorders, Mutation, Autism, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ea9786c47332104f66af81161a75d69Test
https://pubmed.ncbi.nlm.nih.gov/34216016Test

8

Author response for 'ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder'

المؤلفون: null Stephanie Oates, null Michael Absoud, null Sushma Goyal, null Sophie Bayley, null Jennifer Baulcomb, null Annemarie Sims, null Amy Riddett, null Katrina Allis, null Charlotte Brasch Andersen, null Meena Balasubramanian, null Renkui Bai, null Bert Callewaert, null Ulrike Hüffmeier, null Diana LeDuc, null Maximilian Radtke, null Christian Korff, null Joanna Kennedy, null Karen Low, null Rikke Møller, null Jens Erik Klint Nielsen, null Bernt Popp, null Lina Quteineh, null Gitte Rønde, null Bitten Schönewolf‐Greulich, null Amelle Shillington, null Matthew R. G. Taylor, null Emily Todd, null Pernille M. Toerring, null Zeynep Tümer, null Georgia Vasileiou, null T. Michael Yates, null Christiane Zweier, null Richard Rosch, null M. Albert Basson, null Deb K. Pal

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c251d74ff878d534910555523bb1ddf6Test
https://doi.org/10.1111/cge.14023/v3/response1Test

9

Genetic and clinic predictors of new onset diabetes mellitus after transplantation

المؤلفون: Christian van Delden, Séverine Crettol, Paola M. Soccal, Isabelle Binet, Nuria Saigi-Morgui, Pierre-Yves Bochud, Paul Mohacsi, Zoltán Kutalik, Manuel Pascual, Nicolas J. Mueller, Jean-François Dufour, Jürg Steiger, Lina Quteineh, Chin B. Eap

المصدر: The Pharmacogenomics Journal, Vol. 19, No 1 (2019) pp. 53-64

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Type 2 diabetes, 030226 pharmacology & pharmacy, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Risk Factors, Diabetes mellitus, Internal medicine, Diabetes Mellitus, Genetics, medicine, Humans, Prospective Studies, Young adult, Prospective cohort study, Aged, Pharmacology, ddc:616, ddc:615, Organ Transplantation/adverse effects, Receiver operating characteristic, Diabetes Mellitus/etiology/genetics, business.industry, Incidence (epidemiology), Incidence, Organ Transplantation, Middle Aged, medicine.disease, Transplantation, 030104 developmental biology, Molecular Medicine, Female, business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0d1f9a5508e27bda2045e6535e8d5edTest
https://archive-ouverte.unige.ch/unige:127235Test

10

CRTC2 polymorphism as a risk factor for the incidence of metabolic syndrome in patients with solid organ transplantation

المؤلفون: Zoltán Kutalik, Pierre-Yves Bochud, Séverine Crettol, Nicolas J. Mueller, Roger Lehmann, Manuel Pascual, Jean-François Dufour, Paola M. Soccal, Isabelle Binet, Andrea Treyer, Jürg Steiger, Dela Golshayan, Lina Quteineh, Chin B. Eap, Jean-Pierre Venetz, C. van Delden, Paul Mohacsi, Oriol Manuel

المساهمون: and The Swiss Transplant Cohort Study, Achermann, R., Aubert, J.D., Baumann, P., Beldi, G., Benden, C., Berger, C., Binet, I., Bochud, P.Y., Boely, E., Bucher, H., Bühler, L., Carell, T., Catana, E., Chalandon, Y., Geest, S., Rougemont, O., Dickenmann, M., Duchosal, M., Fehr, T., Ferrari-Lacraz, S., Garzoni, C., Gasche, Y., Soccal, P.G., Giostra, E., Golshayan, D., Good, D., Hadaya, K., Hess, C., Hillinger, S., Hirsch, H., Hofbauer, G., Huynh-Do, U., Immer, F., Klaghofer, R., Koller, M., Kuntzen, T., Laesser, B., Lehmann, R., Lovis, C., Manuel, O., Marti, H.P., Martin, P.Y., Meylan, P., Mohacsi, P., Morard, I., Morel, P., Mueller, U., Mueller, N., Mueller-McKenna, H., Müller, T., Müllhaupt, B., Nadal, D., Nair, G., Pascual, M., Passweg, J., Ziegler, C.P., Rick, J., Roosnek, E., Rosselet, A., Rothlin, S., Ruschitzka, F., Schanz, U., Schaub, S., Seiler, C., Semmo, N., Stampf, S., Steiger, J., Toso, C., Tsinalis, D., Delden, C.V., Venetz, J.P., Villard, J., Wick, M., Wilhelm, M., Yerly, P., University of Zurich, Eap, C B

المصدر: Pharmacogenomics Journal
The pharmacogenomics journal
The Pharmacogenomics Journal, Vol. 17, No 1 (2017) pp. 69-75
The pharmacogenomics journal, vol. 17, no. 1, pp. 69-75

مصطلحات موضوعية: 0301 basic medicine, Time Factors, Physiology, Pharmacology, Organ transplantation, 10234 Clinic for Infectious Diseases, Diabetes mellitus genetics, Gene Frequency, Risk Factors, Odds Ratio, Prevalence, ddc:616, Metabolic Syndrome, 2. Zero hunger, education.field_of_study, Incidence, Homozygote, 3. Good health, 10219 Clinic for Gastroenterology and Hepatology, 3004 Pharmacology, Phenotype, Treatment Outcome, 10209 Clinic for Cardiology, Molecular Medicine, 10178 Clinic for Pneumology, Switzerland, Heterozygote, medicine.medical_specialty, Population, 610 Medicine & health, Biology, Polymorphism, Single Nucleotide, Risk Assessment, 03 medical and health sciences, Insulin resistance, 1311 Genetics, Diabetes mellitus, Diabetes Mellitus, Genetics, medicine, Humans, Diabetes Mellitus/epidemiology, Diabetes Mellitus/genetics, Dyslipidemias/epidemiology, Dyslipidemias/genetics, Genetic Predisposition to Disease, Linear Models, Logistic Models, Metabolic Syndrome X/diagnosis, Metabolic Syndrome X/epidemiology, Metabolic Syndrome X/genetics, Multivariate Analysis, Obesity/epidemiology, Obesity/genetics, Organ Transplantation/adverse effects, Switzerland/epidemiology, Transcription Factors/genetics, Obesity, education, Dyslipidemias, Organ Transplantation, Odds ratio, medicine.disease, 10020 Clinic for Cardiac Surgery, Transplantation, 030104 developmental biology, 1313 Molecular Medicine, Metabolic syndrome, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f968f6e0cd0cb34c979bd121298efbe3Test
https://doi.org/10.1038/tpj.2015.82Test

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