نتائج البحث - "Muñoz-Pujol, Gerard"

المصدر: Yépez, Vicente A; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H; Alston, Charlotte L; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elżbieta; Distelmaier, Felix; Freisinger, Peter; Häberle, Johannes; Hayflick, Susan J; Hempel, Maja; Itkis, Yulia S; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Müller, Michaela F; Muñoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; et al (2022). Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Medicine, 14(1):38.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/229871/1/ZORA_229871.pdfTest; info:pmid/35379322; urn:issn:1756-994X

الإتاحة: https://doi.org/10.5167/uzh-22987110.1186/s13073-022-01019-9Test
https://www.zora.uzh.ch/id/eprint/229871Test/
https://www.zora.uzh.ch/id/eprint/229871/1/ZORA_229871.pdfTest

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النص الكامل

4

دورية أكاديمية

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

المؤلفون: Yépez, Vincente A, Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H, Alston, Charlotte L, Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elzbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J, Hempel, Marja, Itkis, Yulia S, Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D, Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michalea F, Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L, Strom, Tim M, Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A, Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W, Wortmann, Saskia B, Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger

المصدر: GENOME MEDICINE ; ISSN: 1756-994X

مصطلحات موضوعية: Medicine and Health Sciences, RNA-seq, Genetic diagnostics, Mendelian diseases, MUTATIONS CAUSE, MITOCHONDRIAL DISEASE, GENE-EXPRESSION, VARIANTS, DEFECT, COMPLEX, DEFICIENCY, GENOMICS, ONSET, CARDIOMYOPATHY

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8755974Test; http://hdl.handle.net/1854/LU-8755974Test; http://dx.doi.org/10.1186/s13073-022-01019-9Test; https://biblio.ugent.be/publication/8755974/file/8755980Test

الإتاحة: https://doi.org/10.1186/s13073-022-01019-9Test
https://biblio.ugent.be/publication/8755974Test
http://hdl.handle.net/1854/LU-8755974Test
https://biblio.ugent.be/publication/8755974/file/8755980Test

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5

دورية أكاديمية

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

المؤلفون: Muñoz Pujol, Gerard, Ortigoza Escobar, Juan D., Paredes Fuentes, Abraham J., Jou, Cristina, Ugarteburu López, Olatz, Gort, Laura, Yubero, Delia, Garcia Cazorla, Angels, O'Callaghan, Mar, Campistol, Jaume, Muchart, Jordi., Yépez, Vicente A., Gusic, Mirjana, Gagneur, Julien, Prokisch, Holger, Artuch Iriberri, Rafael, Ribes, Antonia, Urreizti, Roser, Tort, Frederic

المصدر: Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

مصطلحات موضوعية: Mutació (Biologia), Fenotip, Mutation (Biology), Phenotype

وصف الملف: 13 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1111/bpa.13134Test; Brain Pathology, 2023, vol. 33, num. 3, p. e13134-NA; https://doi.org/10.1111/bpa.13134Test; http://hdl.handle.net/2445/207740Test; 9333091

الإتاحة: https://doi.org/10.1111/bpa.13134Test
http://hdl.handle.net/2445/207740Test

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النص الكامل

6

دورية أكاديمية

Diagnostic odyssey in an adult patient with ophthalmologic abnormalities and hearing loss: Contribution of RNA-seq to the diagnosis of a PEX1 deficiency.

المؤلفون: Muñoz-Pujol, Gerard, Alforja, Socorro, Casaroli Marano, Ricardo Pedro, Morales Romero, Blai, García Villoria, Judit, Yépez, Vicente A, Gagneur, Julien, Gusic, Mirjana, Prokisch, Holger, Tort, Frederic, Ribes Rubió, Maria Antònia

المصدر: Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)

مصطلحات موضوعية: Malalties hereditàries, Peroxisomes, Edema, Oftalmologia, Trastorns auditius, Trastorns del metabolisme, Errors congènits del metabolisme, Genetic diseases, Ophthalmology, Hearing disorders, Disorders of metabolism, Inborn errors of metabolism

وصف الملف: 13 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.3390/ijms232012367Test; International Journal of Molecular Sciences, 2022, vol. 23, num. 20, p. 12367; https://doi.org/10.3390/ijms232012367Test; http://hdl.handle.net/2445/194589Test; 731904

الإتاحة: https://doi.org/10.3390/ijms232012367Test
http://hdl.handle.net/2445/194589Test

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النص الكامل

7

دورية أكاديمية

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

المؤلفون: Muñoz‐Pujol, Gerard, Ortigoza‐Escobar, Juan D., Paredes‐Fuentes, Abraham J., Jou, Cristina, Ugarteburu, Olatz, Gort, Laura, Yubero, Delia, García‐Cazorla, Angels, O'Callaghan, Mar, Campistol, Jaume, Muchart, Jordi, Yépez, Vicente A., Gusic, Mirjana, Gagneur, Julien, Prokisch, Holger, Artuch, Rafael, Ribes, Antonia, Urreizti, Roser, Tort, Frederic

المساهمون: AGAUR, Generalitat de Catalunya, Instituto de Salud Carlos III

المصدر: Brain Pathology ; volume 33, issue 3 ; ISSN 1015-6305 1750-3639

الإتاحة: https://doi.org/10.1111/bpa.13134Test

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8

دورية أكاديمية

CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.

المؤلفون: Muñoz‐Pujol, Gerard, Ugarteburu, Olatz, Segur‐Bailach, Eulàlia, Moliner, Sonia, Jurado, Susana, Garrabou, Glòria, Guitart‐Mampel, Mariona, García‐Villoria, Judit, Artuch, Rafael, Fons, Carme, Ribes, Antonia, Tort, Frederic

المصدر: Journal of Inherited Metabolic Disease; Nov2023, Vol. 46 Issue 6, p1029-1042, 14p

9

دورية أكاديمية

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.

المؤلفون: Arrabal, Luisa¹ (AUTHOR) luisillaarrabal@hotmail.com, Muñoz-Pujol, Gerard² (AUTHOR) gemunoz@recerca.clinic.cat, Medina Martínez, Inmaculada¹ (AUTHOR) inmamed@hotmail.es, Gort, Laura² (AUTHOR) lgort@clinic.cat, García-Villoria, Judit² (AUTHOR) jugarcia@clinic.cat, Roldán, Susana¹ (AUTHOR) sroldanaparicio@gmail.com, Tort, Frederic² (AUTHOR) ftort@recerca.clinic.cat, Ribes, Antonia² (AUTHOR) ftort@recerca.clinic.cat

المصدر: International Journal of Molecular Sciences. Aug2023, Vol. 24 Issue 15, p12319. 12p.

مصطلحات موضوعية: *CENTRAL nervous system, *GENETIC mutation, *PATIENTS' families, *SOMATOTROPIN, *PROTEIN expression

النص الكامل

10

دورية أكاديمية

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

المؤلفون: Muñoz-Pujol, Gerard, Ortigoza-Escobar, Juan D, Paredes-Fuentes, Abraham J, Jou, Cristina, Ugarteburu, Olatz, Gort, Laura, Yubero, Delia, García-Cazorla, Angels, O'Callaghan, Mar, Campistol, Jaume, Muchart, Jordi, Yépez, Vicente A, Gusic, Mirjana, Gagneur, Julien, Prokisch, Holger, Artuch, Rafael, Ribes, Antonia, Urreizti, Roser, Tort, Frederic

المساهمون: Institut für Humangenetik

مصطلحات موضوعية: info:eu-repo/classification/ddc

العلاقة: https://mediatum.ub.tum.de/1708239Test

الإتاحة: https://doi.org/10.1111/bpa.13134Test
https://mediatum.ub.tum.de/1708239Test

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