نتائج البحث - "Tamara Zigman"

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Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

المؤلفون: Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy

المساهمون: Clinical Genetics, University of St Andrews. School of Biology, University of St Andrews. Institute of Behavioural and Neural Sciences, University of St Andrews. St Andrews Bioinformatics Unit

المصدر: Human Genetics. Springer-Verlag
Human Genetics

مصطلحات موضوعية: MCC, NDAS, Genetics, QH426 Genetics, QH426, Genetics (clinical)

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::145f2202f9c8b9a470b51960f983f5e6
https://doi.org/10.1007/s00439-023-02552-2

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2

88 Lowe syndrome – old and new evidence of secondary mitochondrial dysfunction

المؤلفون: Oliver Vugrek, Kamelija Zarkovic, Katja Dumić Kubat, Jelena Petrinovic-Doresic, Darko Antičević, Matea Melša, Tamara Zigman

المصدر: Abstracts.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1974c3ae1543b0d46a597e1f452a3875
https://doi.org/10.1136/archdischild-2021-europaediatrics.88

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Genetic counselling unit- model and experience of University Hospital for Tumours in Croatia

المؤلفون: Iva Kirac, Tamara Zigman, Ramic Snjezana, Tomislav Oresic, Ivan Milas, Danko Velimir Vrdoljak

المصدر: European Journal of Surgical Oncology. 48:e143

مصطلحات موضوعية: Oncology, Surgery, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5ec4b11ceed46bf43f2687fd46181fa3
https://doi.org/10.1016/j.ejso.2021.12.274

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4

A novel disease-causing NF1 variant in a Croatian family with neurofibromatosis type 1

المؤلفون: Kristina Gotovac Jercic, Fran Borovečki, Goran Krakar, Sanja Delin, Vlasta Duranovic, Tamara Zigman

المصدر: Molecular and Experimental Biology in Medicine
Volume 2
Issue 2

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b83ed5342e28de8f40b82c0097e44d5
https://doi.org/10.33602/mebm.2.2.4

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Lowe syndrome – Old and new evidence of secondary mitochondrial dysfunction

المؤلفون: Kamelija Zarkovic, Tamara Zigman, Katja Dumic, Darko Anticevic, Oliver Vugrek, Filip Rokić, Jelena Petrinovic-Doresic

المصدر: European Journal of Medical Genetics. 63:104022

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4da1f61a5aea920db0be6cabb82b5cb
https://doi.org/10.1016/j.ejmg.2020.104022

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دورية أكاديمية

Experiences with galactosemia in Croatia

المؤلفون: Ana Šmaguc, Danijela Petković Ramadža, Vladimir Sarnavka, Vjekoslav Krželj, Bernarda Lozić, Silvija Pušeljić, Valentina Rahelić, Nikola Mesarić, Marina Grubić, Ana Bogdanić, Anita Špehar Uroić, Tamara Žigman, Ruža Grizelj, Jurica Vuković, Duško Mardešić, Ildiko Szatmari, Isabel Rivera, Ksenija Fumić, Ivo Barić

المصدر: Liječnički vjesnik, Vol 145, Iss 1-2, Pp 1-11 (2023)

مصطلحات موضوعية: galactosemias – complications, diagnosis, genetics, galactose – blood, utp-hexose-1-phosphate uridylyltransferase – deficiency, udp glucose 4-epimerase – deficiency, galactokinase – deficiency, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://lijecnicki-vjesnik.hlz.hr/pdf/1-2-2023/01_smaguc.pdf; https://doaj.org/toc/0024-3477; https://doaj.org/toc/1849-2177

URL الوصول: https://doaj.org/article/172aeb75c94342c59411f163b00e629a

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Association between home birth and breast feeding outcomes: a cross-sectional study in 28 125 mother–infant pairs from Ireland and the UK

المؤلفون: Louise Gallagher, Clare Quigley, Tamara Zigman, Lina Zgaga, Harry Campbell, Cristina Taut

المصدر: Quigley, C, Taut, C, Zigman, T, Gallagher, L, Campbell, H & Zgaga, L 2016, ' Association between home birth and breast feeding outcomes : a cross-sectional study in 28 125 mother-infant pairs from Ireland and the UK ', BMJ Open, vol. 6, no. 8, pp. e010551 . https://doi.org/10.1136/bmjopen-2015-010551
BMJ Open

مصطلحات موضوعية: Pediatrics, Epidemiology, Cross-sectional study, 0302 clinical medicine, Pregnancy, UK, 030212 general & internal medicine, Home Childbirth, education.field_of_study, Pregnancy Outcome, General Medicine, Place of birth, Parity, Breast Feeding, Female, delivery, Developed country, Maternal Age, Adult, medicine.medical_specialty, Population, Young Adult, 03 medical and health sciences, 030225 pediatrics, medicine, Humans, education, home birth, business.industry, Research, Infant, Newborn, Infant, United Kingdom, Cross-Sectional Studies, Millennium Cohort Study (United States), Socioeconomic Factors, developed countries, business, Ireland, Home birth, Breast feeding, Demography