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Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

• Authors : Mademont-Soler I; Àrea de Genètica Clínica i Consell Genètic, Laboratori Clínic Territorial Girona, Institut Català de la Salut, Girona, Spain.; Grup de Trastorns del Neurodesenvolupament, Institut Investigació Biomèdica de Girona, Girona, Spain.

Subjects: Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/genetics ; Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/diagnosis ; Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/pathologySpastic paraplegia 11, autosomal recessive

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jun; Vol. 12 (6), pp. e2475.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Special Issue "Molecular and Genetic Aspects of SARS-CoV-2 Infection and COVID-19 Disease".

• Authors : Cardona F; Unitat de Genètica Molecular, Institut de Biomedicina de València-CSIC, Jaume Roig 11, 46010 València, Spain.; CIBERNED, ISCIII, 46010 València, Spain.

Subjects: COVID-19*/COVID-19*/COVID-19*/genetics ; COVID-19*/COVID-19*/COVID-19*/virology ; SARS-CoV-2*/SARS-CoV-2*/SARS-CoV-2*/genetics

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Apr 25; Vol. 25 (9). Date of Electronic Publication: 2024 Apr 25.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Sex-associated differences in genomic profile of chronic myelomonocytic leukemia involving differential representation of SRSF2 gene mutation.

• Authors : Calvo X; Laboratori de Citologia Hematològica, Servei de Patologia, Grup de Recerca Translacional en Neoplàsies Hematològiques (GRETNHE), Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Roman-Bravo D

Subjects: Leukemia, Myelomonocytic, Chronic*/Leukemia, Myelomonocytic, Chronic*/Leukemia, Myelomonocytic, Chronic*/diagnosis ; Leukemia, Myelomonocytic, Chronic*/Leukemia, Myelomonocytic, Chronic*/Leukemia, Myelomonocytic, Chronic*/genetics; Humans

• Source: International journal of laboratory hematology [Int J Lab Hematol] 2023 Dec; Vol. 45 (6), pp. 1011-1015. Date of Electronic Publication: 2023 Aug 03.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101300213 Publication Model: Print-Electronic Cited Medium:

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Relationship between COVID-19 Pandemic Confinement and Worsening or Onset of Depressive Disorders.

• Authors : Camargo D; Faculty of Health Sciences, Valencian International University (VIU), 46002 Valencia, Spain.; Navarro-Tapia E

• Source: Brain sciences [Brain Sci] 2023 Jun 02; Vol. 13 (6). Date of Electronic Publication: 2023 Jun 02.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101598646 Publication Model: Electronic Cited Medium: Print ISSN: 2076-3425 (Print)

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Transcriptome Profile in Dairy Cows Resistant or Sensitive to Milk Fat Depression.

• Authors : Siurana A; Animal Nutrition and Welfare Service, Autonomous University of Barcelona, 08193 Barcelona, Spain.; Cánovas A

• Source: Animals : an open access journal from MDPI [Animals (Basel)] 2023 Mar 29; Vol. 13 (7). Date of Electronic Publication: 2023 Mar 29.Publisher: Molecular Diversity Preservation International Country of Publication: Switzerland NLM ID: 101635614 Publication Model:

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Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.

• Authors : Muñoz-Pujol G; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.; Alforja-Castiella S

Subjects: Zellweger Syndrome*/Zellweger Syndrome*/Zellweger Syndrome*/diagnosis ; Zellweger Syndrome*/Zellweger Syndrome*/Zellweger Syndrome*/genetics ; Hearing Loss, Sensorineural*/Hearing Loss, Sensorineural*/Hearing Loss, Sensorineural*/genetics Peroxisome biogenesis disorders

• Source: International journal of molecular sciences [Int J Mol Sci] 2022 Oct 15; Vol. 23 (20). Date of Electronic Publication: 2022 Oct 15.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Insights into the Pharmacogenetics of Tacrolimus Pharmacokinetics and Pharmacodynamics.

• Authors : Brunet M; Farmacologia i Toxicologia, Servei de Bioquímica i Genètica Molecular, Centre de Diagnòstic Biomèdic. Hospital Clínic de Barcelona, Universitat de Barcelona, 08036 Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pí i Sunyer (IDIBAPS), 08036 Barcelona, Spain.

• Source: Pharmaceutics [Pharmaceutics] 2022 Aug 23; Vol. 14 (9). Date of Electronic Publication: 2022 Aug 23.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101534003 Publication Model: Electronic Cited Medium: Print ISSN: 1999-4923 (Print)

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HACE1 builds molecular crosstalks between rare diseases and (more) common disorders.

• Authors : Tort F; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.

Subjects: Rare Diseases*/Rare Diseases*/Rare Diseases*/genetics ; Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/metabolism; Humans

• Source: Clinical and translational medicine [Clin Transl Med] 2022 Jun; Vol. 12 (6), pp. e922.Publisher: Wiley Country of Publication: United States NLM ID: 101597971 Publication Model: Print Cited Medium: Internet ISSN: 2001-1326

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Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.

• Authors : Segur-Bailach E; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, CDB, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.; Ugarteburu O

• Source: Journal of clinical medicine [J Clin Med] 2022 Mar 21; Vol. 11 (6). Date of Electronic Publication: 2022 Mar 21.Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383

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Rapid and real-time identification of fungi up to species level with long amplicon nanopore sequencing from clinical samples.

• Authors : D'Andreano S; SVGM, Servei Veterinari de Genètica Molecular, Universitat Autònoma de Barcelona, 08193, Bellaterra, Barcelona, Spain.; Vetgenomics, Edifici EUREKA, Parc de Recerca de la UAB, Campus UAB, 08193, Bellaterra, Barcelona, Spain.

• Source: Biology methods & protocols [Biol Methods Protoc] 2020 Dec 23; Vol. 6 (1), pp. bpaa026. Date of Electronic Publication: 2020 Dec 23 (Print Publication: 2021).Publisher: Oxford University Press Country of Publication: England NLM ID: 101693064 Publication Model: eCollection Cited Medium: Internet ISSN:

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