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Year Number of Results
2009 1
2012 2
2015 5
2016 1
2018 1
2019 1
2021 2
2022 1
2023 3
2024 0

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17 results

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Page 1
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: ramadza dp. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
Loeber JG, Platis D, Zetterström RH, Almashanu S, Boemer F, Bonham JR, Borde P, Brincat I, Cheillan D, Dekkers E, Dimitrov D, Fingerhut R, Franzson L, Groselj U, Hougaard D, Knapkova M, Kocova M, Kotori V, Kozich V, Kremezna A, Kurkijärvi R, La Marca G, Mikelsaar R, Milenkovic T, Mitkin V, Moldovanu F, Ceglarek U, O'Grady L, Oltarzewski M, Pettersen RD, Ramadza D, Salimbayeva D, Samardzic M, Shamsiddinova M, Songailiené J, Szatmari I, Tabatadze N, Tezel B, Toromanovic A, Tovmasyan I, Usurelu N, Vevere P, Vilarinho L, Vogazianos M, Yahyaoui R, Zeyda M, Schielen PCJI. Loeber JG, et al. Among authors: ramadza d. Int J Neonatal Screen. 2021 Mar 5;7(1):15. doi: 10.3390/ijns7010015. Int J Neonatal Screen. 2021. PMID: 33808002 Free PMC article.
GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
Bayat A, Lindau T, Aledo-Serrano A, Gil-Nagel A, Barić I, Bartoniček D, Mateševac J, Ramadža DP, Žigman T, Pušeljić S, Dorner S, Bupp C, Devries S, Møller RS. Bayat A, et al. Among authors: ramadza dp. Clin Genet. 2023 Nov;104(5):598-603. doi: 10.1111/cge.14405. Epub 2023 Jul 25. Clin Genet. 2023. PMID: 37489290
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
Stepien KM, Langendonk JG, Dao M, Gomes DC, Douillard C, Filipsson K, Glamuzina E, Haverkamp JA, Langeveld M, Lehman A, de Lonlay P, Lund AM, Oscarson M, Peltenburg NC, Ramadža DP, Ramachandran R, Reismann P, Shtylla A, Tchan M, Tan CY, Wilson C, Woodall A, Murphy E, Wagenmakers MAEM. Stepien KM, et al. Among authors: ramadza dp. J Inherit Metab Dis. 2023 Dec 9. doi: 10.1002/jimd.12695. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 38069502
[Congenital hyperinsulinism--novel insights into etiology, diagnosis and treatment].
Martinac I, Bogović M, Batinica S, Sarnavka V, Frković SH, Matić T, Jakić-Razumović J, Rubin O, Luetić T, Kusec V, Ramadza DP, Begović D, Benjak V, Dasović-Buljević A, Antabak A, Cavar S, Kukin D, Srsen-Medancić S, Barić I. Martinac I, et al. Among authors: ramadza dp. Lijec Vjesn. 2012 Sep-Oct;134(9-10):286-92. Lijec Vjesn. 2012. PMID: 23297514 Review. Croatian.
The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.
Ninković D, Mustapić Ž, Bartoniček D, Benjak V, Ćuk M, Buljević AD, Grčić BF, Fumić K, Grizelj R, Lehman I, Ramadža DP, Sarnavka V, Slaviček J, Kastelić JS, Barišić N, Barić I. Ninković D, et al. Among authors: ramadza dp. Klin Padiatr. 2019 Mar;231(2):74-79. doi: 10.1055/a-0855-4001. Epub 2019 Mar 14. Klin Padiatr. 2019. PMID: 30870873 English.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Roscioli T, et al. Among authors: ramadza dp. Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253. Nat Genet. 2012. PMID: 22522421 Free PMC article.
17 results