Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Katja Dumić Kubat"'
INTRODUCTION: GLI3 gene plays role in sonic hedgehog signalling. Haploinsufficiency of GLI3 causes variable alterations in gene expression during development leading to autosomal dominant Pallister – Hall syndrome (PHS). Typical phenotype includes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::5747ffbab66f3e06732726acaa27a7dc
https://www.bib.irb.hr/1266655
https://www.bib.irb.hr/1266655
Autor:
Ruža Grizelj, Toni Matić, Nada Sindičić Dessardo, Nevenka Cigrovski, Iva Vukšić, Miram Pasini, Jadranka Kelečić, Tomislav Luetić, Tomislav Ćaleta, Katja Dumić Kubat, Jurica Vuković
Publikováno v:
Abstracts.
Autor:
Duje Braovac, Maja Vinkovic, Katja Dumić Kubat, Anita Špehar Uroić, Nevena Krnić, Vesna Kušec
Publikováno v:
Abstracts.
Publikováno v:
Abstracts.
Autor:
Oliver Vugrek, Kamelija Zarkovic, Katja Dumić Kubat, Jelena Petrinovic-Doresic, Darko Antičević, Matea Melša, Tamara Zigman
Publikováno v:
Abstracts.
Autor:
Ivana Sabolić, Matea Melša, Miram Pasini, Kristina Crkvenac Gornik, Nevena Krnić, Marija Mikloš, Katja Dumić Kubat
Publikováno v:
Abstracts.
Publikováno v:
Liječnički vjesnik
Volume 142
Issue Supp 5
Volume 142
Issue Supp 5
Kearns – Sayre syndrome (KSS) is a rare mitochondriopathy. Among chronic progressive external ophthalmoplegia, pigmentary retinal degeneration and ataxia that are present in most patients before age of 20, majority of patients also have various end
Autor:
Giuseppe Zampino, Anwar Baban, Fanny Kortüm, Antonio Novelli, Kerstin Kutsche, Marcello Niceta, Roberta Onesimo, Chiara Leoni, Katja Dumić Kubat, Maria Cristina Digilio, Monia Magliozzi, Maria Gabriela Obregon, Marco Tartaglia, Maria Lisa Dentici, Stephen P. Robertson, Angélica Moresco
Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::392783b53c15a635029e109c55b5ac55
http://hdl.handle.net/10807/166647
http://hdl.handle.net/10807/166647
Publikováno v:
Liječnički vjesnik
Volume 141
Issue suppl.1
Volume 141
Issue suppl.1
Van Wyk-Grumbach syndrome (VWGS) is characterized by prolonged primary hypothyroidism, isosexual precocious pseudopuberty, delayed bone age with either enlarged multicystic ovaries in girls or enlarged testes in boys. Pathophysiology is most likely b
Autor:
Nataša Rojnić Putarek, Nevena Krnić, Lana Škrgatić, Mihajlo Strelec, Marija Macan, Anita Spehar Uroic, Vesna Kušec, Katja Dumić Kubat
Objective – The aim was to report a case of a 17-year-old girl with marked virilization and secondary amenorrhea due to androgen producing Sertoli-Leydig cell tumor (SLCT). We also provided a brief review of the literature with insight into clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31e45badda2f24358587ef912a0c8aca
https://doi.org/10.5457/p2005-114.205.
https://doi.org/10.5457/p2005-114.205.