-
1دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
2
المؤلفون: Madrigal I, Raquel Rabionet Janssen, Alvarez-Mora MI, Sanchez A, Rodríguez-Revenga L, Estivill X, Mila M
المصدر: Gene
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Exome sequencing, Intellectual disability, Microcephaly, TUBB5
-
3
المؤلفون: Alvarez-Mora, MI, Madrigal, I, Martinez, F, Tejada, MI, Izquierdo-Alvarez, S, de Saz, PSV, Caro-Llopis, A, Villate, O, Rodriguez-Santiago, B, Jurado, LAP, Rodriguez-Revenga, L, Mila, M
المصدر: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
CLINICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Feمصطلحات موضوعية: genetic counseling, gray zone, neurodevelopmental disorders, movement disorders, FMR1 intermediate alleles, primary ovarian insufficiency
وصف الملف: application/pdf
-
4
المؤلفون: Lopez-Mourelo, O, Mur, E, Madrigal, I, Alvarez-Mora, MI, Gomez-Anson, B, Pagonabarraga, J, Rodriguez-Revenga, L, Mila, M
المصدر: CLINICAL GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: autism, FXTAS, autistic traits, social anxiety, FMR1 premutation, social phobia
-
5دورية أكاديمية
المؤلفون: Agusti I; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Alvarez-Mora MI; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and FCRB- Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), C/Villarroel, 170, Barcelona, 08036, Spain.; CIBER of Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Wijngaard R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Borras A; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Barcos T; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and FCRB- Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), C/Villarroel, 170, Barcelona, 08036, Spain., Peralta S; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Guimera M; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Goday A; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Manau D; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Rodriguez-Revenga L; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and FCRB- Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), C/Villarroel, 170, Barcelona, 08036, Spain. lbodi@clinic.cat.; CIBER of Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain. lbodi@clinic.cat.
المصدر: Journal of ovarian research [J Ovarian Res] 2024 May 17; Vol. 17 (1), pp. 103. Date of Electronic Publication: 2024 May 17.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101474849 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-2215 (Electronic) Linking ISSN: 17572215 NLM ISO Abbreviation: J Ovarian Res Subsets: MEDLINE
مواضيع طبية MeSH: Fragile X Mental Retardation Protein*/genetics , Ovarian Reserve*/genetics , Biomarkers*/blood , Anti-Mullerian Hormone*/blood , Primary Ovarian Insufficiency*/genetics , Primary Ovarian Insufficiency*/blood, Humans ; Female ; Adult ; Heterozygote ; Fragile X Syndrome/genetics ; Fragile X Syndrome/blood ; Mutation ; Ovarian Follicle/metabolism ; Young Adult
-
6دورية أكاديمية
المؤلفون: Alvarez-Mora MI; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 08036 Barcelona, Spain.; Fundacio de Recerca Clínic Barcelona-Institut d'Investigacions Biomediques August Pi i Sunyer (FRCB-IDIBAPS), 08036 Barcelona, Spain., Garrabou G; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 08036 Barcelona, Spain.; Inherited Metabolic Diseases and Muscle Disorders' Research Laboratory (U722), Cellex-IDIBAPS, Faculty of Medicine and Health Sciences, University of Barcelona, Internal Medicine Department--Hospital Clínic Clinic of Barcelona, 08036 Barcelona, Spain., Molina-Porcel L; Fundacio de Recerca Clínic Barcelona-Institut d'Investigacions Biomediques August Pi i Sunyer (FRCB-IDIBAPS), 08036 Barcelona, Spain.; Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, 08036 Barcelona, Spain.; Neurological Tissue Bank of the Biobanc-Hospital Clinic-FCRB-IDIBAPS, 08036 Barcelona, Spain., Grillo-Risco R; Bioinformatics and Biostatistics Unit, Principe Felipe Research Center (CIPF), 46012 Valencia, Spain., Garcia-Garcia F; Bioinformatics and Biostatistics Unit, Principe Felipe Research Center (CIPF), 46012 Valencia, Spain., Barcos T; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain., Cantó-Santos J; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 08036 Barcelona, Spain.; Inherited Metabolic Diseases and Muscle Disorders' Research Laboratory (U722), Cellex-IDIBAPS, Faculty of Medicine and Health Sciences, University of Barcelona, Internal Medicine Department--Hospital Clínic Clinic of Barcelona, 08036 Barcelona, Spain., Rodriguez-Revenga L; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 08036 Barcelona, Spain.; Fundacio de Recerca Clínic Barcelona-Institut d'Investigacions Biomediques August Pi i Sunyer (FRCB-IDIBAPS), 08036 Barcelona, Spain.
المصدر: Cells [Cells] 2023 Sep 26; Vol. 12 (19). Date of Electronic Publication: 2023 Sep 26.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE
مواضيع طبية MeSH: Tremor*/genetics , Tremor*/metabolism , Tremor*/pathology , Fragile X Syndrome*/pathology, Adult ; Humans ; Ubiquitin/metabolism ; Fragile X Mental Retardation Protein/genetics ; Ataxia/pathology ; Autophagy ; Small Ubiquitin-Related Modifier Proteins/metabolism
SCR Disease Name: Fragile X Tremor Ataxia Syndrome
-
7دورية أكاديمية
المؤلفون: Martinez-Cayuelas E; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Blanco-Kelly F; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Lopez-Grondona F; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain., Swafiri ST; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Lopez-Rodriguez R; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; School of Pharmacy, Universidad San Pablo CEU. CEU Universities, Madrid, Spain., Losada-Del Pozo R; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Mahillo-Fernandez I; Department of Statistics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain., Moreno B; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Rodrigo-Moreno M; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Casas-Alba D; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., Lopez-Gonzalez A; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., García-Miñaúr S; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Ángeles Mori M; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Pacio-Minguez M; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Rikeros-Orozco E; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Santos-Simarro F; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Cruz-Rojo J; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain., Quesada-Espinosa JF; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Sanchez-Calvin MT; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Sanchez-Del Pozo J; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain., Bernado Fonz R; Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain., Isidoro-Garcia M; Department of Biochemistry, Hospital Universitario de Salamanca. IBSAL Universidad de Salamanca, Salamanca, Spain., Ruiz-Ayucar I; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain., Alvarez-Mora MI; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain., Blanco-Lago R; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain., De Azua B; Department of Pediatrics, Hospital Son Llàtzer, Palma de Mallorca, Spain., Eiris J; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Garcia-Peñas JJ; Pediatric Neurology Unit, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Gil-Fournier B; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain., Gomez-Lado C; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Irazabal N; Department of Pediatrics, Hospital Can Misses, Eivissa, Spain., Lopez-Gonzalez V; Medical Genetics Unit, Department of Genetics, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain., Madrigal I; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain., Malaga I; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain., Martinez-Menendez B; Pediatric Neurology Unit, Department of Neurology, Hospital Universitario de Getafe, Madrid, Spain., Ramiro-Leon S; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain., Garcia-Hoyos M; Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain., Prieto-Matos P; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain., Lopez-Pison J; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Miguel Servet, Zaragoza, Spain., Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain., Alvarez S; Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain., Fernández-Jaén A; Department of Pediatric Neurology, Hospital Universitario Quironsalud Madrid, Madrid, Spain., Llano-Rivas I; Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain., Gener-Querol B; Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain., Ayuso C; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Arteche-Lopez A; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Palomares-Bralo M; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Cueto-González A; Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain., Martinez-Monseny A; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., Lorda-Sanchez I; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Almoguera B; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain balmoguera@quironsalud.es.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
المصدر: Journal of medical genetics [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 644-654. Date of Electronic Publication: 2022 Nov 29.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
مواضيع طبية MeSH: Intellectual Disability*/diagnosis , Intellectual Disability*/epidemiology , Intellectual Disability*/genetics , Abnormalities, Multiple*/diagnosis , Bone Diseases, Developmental*/genetics , Tooth Abnormalities*/genetics , Autism Spectrum Disorder*/genetics, Male ; Humans ; Facies ; DNA Copy Number Variations ; Repressor Proteins/genetics ; Chromosome Deletion ; Phenotype ; Transcription Factors/genetics
SCR Disease Name: KBG syndrome
-
8دورية أكاديمية
المؤلفون: Alvarez-Mora MI; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain., Rodríguez-Revenga L; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain., Jodar M; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.; Molecular Biology of Reproduction and Development Research Group, Department of Biomedical Sciences, Faculty of Medicine, Universitat de Barcelona, 08036 Barcelona, Spain., Potrony M; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain., Sanchez A; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain., Badenas C; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain., Oriola J; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain., Villanueva-Cañas JL; Molecular Biology CORE (CDB), Hospital Clínic de Barcelona, 08036 Barcelona, Spain., Muñoz E; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic Universitari de Barcelona, IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN-RND, Institut Clínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, 08036 Barcelona, Spain., Valldeoriola F; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic Universitari de Barcelona, IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN-RND, Institut Clínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, 08036 Barcelona, Spain., Cámara A; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic Universitari de Barcelona, IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN-RND, Institut Clínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, 08036 Barcelona, Spain., Compta Y; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic Universitari de Barcelona, IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN-RND, Institut Clínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, 08036 Barcelona, Spain., Carreño M; Epilepsy Unit, Department of Neurology, Hospital Clinic, 08036 Barcelona, Spain., Martí MJ; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic Universitari de Barcelona, IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN-RND, Institut Clínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, 08036 Barcelona, Spain., Sánchez-Valle R; Neurology Department, Clinical Institute of Neurosciences, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; Biomedical Research Institute August Pi i Sunyer (IDIBAPS), Hospital Clinic of Barcelona, 08036 Barcelona, Spain., Madrigal I; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain.
المصدر: Genes [Genes (Basel)] 2023 Mar 28; Vol. 14 (4). Date of Electronic Publication: 2023 Mar 28.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
مواضيع طبية MeSH: Exome*/genetics , Epilepsy*/diagnosis , Epilepsy*/genetics, Humans ; Exome Sequencing ; Retrospective Studies ; Phenotype
-
9دورية أكاديمية
المؤلفون: Elias-Mas A; Radiology Department, Hospital Universitari Mútua de Terrassa, Terrassa, Barcelona, Spain.; Institute for Research and Innovation Parc Taulí (I3PT), Sabadell, Spain.; Genetics Doctorate Program, Universitat de Barcelona (UB), Barcelona, Spain., Potrony M; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain., Bague J; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona, Spain., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States., Alvarez-Mora MI; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain., Torres T; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain., Barcos T; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Puig-Butille JA; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.; Molecular Biology CORE, Hospital Clinic of Barcelona, Barcelona, Spain., Rubio M; Institute for Research and Innovation Parc Taulí (I3PT), Sabadell, Spain.; Department of Neurology, Parc Taulí Hospital Universitari, Sabadell, Spain., Madrigal I; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain., Puig S; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.; Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona, Spain., Allen EG; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States., Rodriguez-Revenga L; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
المصدر: Frontiers in aging neuroscience [Front Aging Neurosci] 2023 Jan 06; Vol. 14, pp. 1073258. Date of Electronic Publication: 2023 Jan 06 (Print Publication: 2022).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101525824 Publication Model: eCollection Cited Medium: Print ISSN: 1663-4365 (Print) Linking ISSN: 16634365 NLM ISO Abbreviation: Front Aging Neurosci Subsets: PubMed not MEDLINE
-
10تقرير
المؤلفون: Rodriguez-Revenga L; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Alvarez-Mora MI; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
المصدر: Genes [Genes (Basel)] 2022 Nov 02; Vol. 13 (11). Date of Electronic Publication: 2022 Nov 02.
نوع المنشور: Editorial; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
مواضيع طبية MeSH: Neurobiology* , Mental Disorders*/genetics, Humans
Find this article in full text from Springer Verlag. 
Full Text Finder