المؤلفون: Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V

المصدر: Balkan Journal of Medical Genetics, Vol 19, Iss 2, Pp 95-100 (2016)

مصطلحات موضوعية: barth syndrome (bths), cardiomyopathy, neutropenia, 3-methylglutaconin aciduria, tafazzin (taz) gene, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/c60d0733477943c7bdc6eb033d1368b8

المؤلفون: Borkar, Minal, Bijarnia-Mahay, Sunita, Kohli, Sudha, Juneja, Monica, Srivastava, Yogesh, Saxena, Renu, Verma, Ishwar C.

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2015 3

مصطلحات موضوعية: Barth syndrome, TAZ gene, India, prenatal diagnosis, bioinformatic analyses

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100801

المؤلفون: Sriram Padmanabhan, Shiavax J. Rao, Arjun Kanwal

المصدر: European Heart Journal: Case Reports

مصطلحات موضوعية: medicine.medical_specialty, TAZ gene, Lightheadedness, Ejection fraction, Neutropenia, business.industry, Cardiomyopathy, Dilated cardiomyopathy, Barth syndrome, Exercise intolerance, medicine.disease, Pulmonary hypertension, Internal medicine, Case report, medicine, Cardiology, Tafazzin, AcademicSubjects/MED00200, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Idiopathic Cardiomyopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f45fe7a70ebb4dd55469a8cc6bb75c
http://europepmc.org/articles/PMC8453413

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المؤلفون: Algirdas Utkus, M Bakšienė, Eglė Benušienė, Laima Ambrozaitytė, Aušra Morkūnienė, Vaidutis Kučinskas

المصدر: Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 19, Iss 2, Pp 95-100 (2016)

مصطلحات موضوعية: 0301 basic medicine, Neutropenia, Tafazzin, Case Report, QH426-470, Gene mutation, 3-Methylglutaconin aciduria, 03 medical and health sciences, Cyclic neutropenia, chemistry.chemical_compound, Barth Syndrome (BTHS), Genetics, medicine, Cardiolipin, Tafazzin (TAZ) gene, Gene, Genetics (clinical), Splice site mutation, biology, Intron, Barth syndrome, medicine.disease, Molecular biology, 030104 developmental biology, chemistry, biology.protein, cardiomyopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1115ea882a604330424f6cd057a3273e
http://europepmc.org/articles/PMC5343338

المؤلفون: Borkar,Minal, Bijarnia-Mahay,Sunita, Kohli,Sudha, Juneja,Monica, Srivastava,Yogesh, Saxena,Renu, Verma,Ishwar C.

المصدر: Journal of Inborn Errors of Metabolism and Screening, Volume: 3, Article number: e140014, Published: 19 JUN 2019
Journal of Inborn Errors of Metabolism and Screening v.3 2015
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT

مصطلحات موضوعية: TAZ gene, prenatal diagnosis, bioinformatic analyses, India, Barth syndrome

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::671d9f0b2ef5b0a2330bdce5c10a4e99
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100801&lng=en&tlng=en

المؤلفون: I. V. Leontyeva, E. A. Nikolaeva, E. P. Kalachanova

المصدر: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 61, Iss 1, Pp 64-70 (2016)

مصطلحات موضوعية: medicine.medical_specialty, Heart Injury, Myocarditis, medicine.medical_treatment, heart failure, growth retardation, left ventricular non-compaction, arrhythmia, сhildren, Pediatrics, RJ1-570, barth disease, Internal medicine, Medicine, neutropenia, Decompensation, Heart transplantation, treatment, business.industry, Endocardial fibroelastosis, Barth syndrome, Dilated cardiomyopathy, taz gene, medicine.disease, dilated cardiomyopathy, Heart failure, Pediatrics, Perinatology and Child Health, Cardiology, 3-methylglutaconic aciduria, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0150bbccb9fbe8186ecdfce154211a96
https://www.ped-perinatology.ru/jour/article/view/22

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المؤلفون: Mitiko Go, Atsushi Hijikata, Kei Yura, Osamu Ohara

المصدر: Meta Gene

مصطلحات موضوعية: Genetics, TAZ gene, biology, Alternative splicing, Tafazzin, Homology modeling, Barth syndrome, medicine.disease, Article, Disease-causing mutations, Exon, X-linked recessive disease, biology.protein, Cardiolipin binding, medicine, Immunodeficiency, Intrinsically unstructured region, Inner mitochondrial membrane, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c73a0f03b3e70e0ff554f4a398e5886d

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