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1 . Academic Journal
Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping
저자
by
Mario Cuk
;
Busra Unal
;
Andjela Bevanda
;
Connor P. Hayes
;
McKenzie Walker
, et al.
소스
Genes, Vol 15, Iss 7, p 946 (2024)
Open Access (DOAJ)
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7 . Academic Journal
First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism
저자
by
Nenad Koruga
;
Silvija Pušeljić
;
Marko Babić
;
Mario Ćuk
;
Andrea Cvitković Roić
, et al.
소스
Children, Vol 10, Iss 4, p 623 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Innovative Genome Joint Analysis for identification of novel deep-intronic de novo pathogenic variants in KMT2A gene - WiedemannSteiner Syndrom
저자
by
Matea Bagarić
;
Nives Živković Živković
;
Mario Ćuk
.
소스
Liječnički vjesnik, Vol 145, Iss Supp 2, Pp 70-70 (2023)
Open Access (DOAJ)
Scopus
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5 . Academic Journal
Innovative Whole Genome Joint Analysis – case report of early diagnosis and preventive approach to HFE Hemochromatosis
저자
by
Marjan Kulaš
;
Dina Gržan
;
Sandro Kukić
;
Luka Lovrenčić
;
Mario Ćuk
.
소스
Liječnički vjesnik, Vol 145, Iss Supp 2, Pp 70-70 (2023)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease
저자
by
Dina Gržan
;
Marjan Kulaš
;
Lea Jukić
;
Petra Sulić
;
Mario Ćuk
.
소스
Liječnički vjesnik, Vol 145, Iss Supp 2, Pp 86-86 (2023)
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7 .
Importance of Diagnostic Imaging Technology in asymptomatic patients and therapeutic imaging approach: Child with ruptured brain AVM
저자
by
Nina Barišić
;
Tea Štrbac
;
David Ozretić
;
Vana Stojić
;
Rene Chapot
, et al.
소스
Liječnički vjesnik
Volume 142
Issue Supp 5
Open Access (OpenAIRE)
Scopus
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7 .
Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function
저자
by
Carl Weidinger
;
Martin Vaeth
;
Axel R. Concepcion
;
Mario Ćuk
;
Scott J. Cameron
, et al.
소스
Journal of Clinical Investigation
. 126:4303-4318
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7 .
The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias
저자
by
Ruža Grizelj
;
Nina Barišić
;
Mario Ćuk
;
Boris Filipović Grčić
;
Željka Mustapić
, et al.
소스
Klinische Padiatrie
. 231(2)
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7 .
Can Genetic counseling and Preimplantation Genetic Diagnosis prevent fatal infantile-onset Pompe disease?
저자
by
Stipe Dumančić
;
Ana Smajo
;
Mario Ćuk
.
소스
Liječnički vjesnik
Volume 141
Issue suppl.1
Open Access (OpenAIRE)
Scopus
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5 .
Inborn metabolic disorders in differential diagnosis of cyclic vomiting syndrome in children
저자
by
Ana Smajo
;
Stipe Dumančić
;
Mario Ćuk
.
소스
Liječnički vjesnik
Volume 141
Issue suppl.1
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