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검색어 [키워드: "Mero, Gabriella"]

1

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

학술저널

issue: JOURNAL OF MEDICAL GENETICS; AUG 14 2023, 10p.
Author: Szakszon, Katalin
Lourenco, Charles Marques
Callewaert, Bert Louis
Genevieve, David
Rouxel, Flavien
Morin, Denis
Denomme-Pichon, Anne-Sophie
Vitobello, Antonio
Patterson, Wesley
Louie, Raymond
Vairo, Filippo
Klee, Eric
Kaiwar, Charu
Gavrilova, Ralitza H.
Agre, Katherine E.
Jacquemont, Sebastien
Khadije, Jizi
Giltay, Jacques
van Gassen, Koen
Mero, Gabriella
Gerkes, Erica
Van Bon, Bregje W.
Rinne, Tuula
Pfundt, Rolph
Brunner, Han G.
Caluseriu, Oana
Grasshoff, Ute
Kehrer, Martin
Haack, Tobias B.
Khelifa, Melik Malek
Bergmann, Anke Katharina
Cueto-Gonzalez, Anna Maria
Martorell, Ariadna Campos
Ramachandrappa, Shwetha
Sawyer, Lindsey B.
Fasel, Pascale
Braun, Dominique
Isis, Atallah
Superti-Furga, Andrea
McNiven, Vanda
Chitayat, David
Ahmed, Syed Anas
Brennenstuhl, Heiko
Schwaibolf, Eva M. C.
Battisti, Gladys
Parmentier, Benoit
Stevens, Servi J. C.
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

2

EFFECTIVE THERAPY IN HIGHLY ACTIVE PEDIATRIC MULTIPLE SCLEROSIS

학술저널

issue: IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE; NOV 30 2021, 74 11-12, p413-p424, 12p.
Author: Mero, Gabriella
Moser, Judit
Liptai, Zoltan
Dioszeghy, Peter
Bessenyei, Monika
Csepany, Tunde
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

3

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

학술저널

issue: GENES & DEVELOPMENT; NOV 1 2020, 34 21-22, p1520-p1533, 14p.
Author: Parry, David A.
Tamayo-Orrego, Lukas
Carroll, Paula
Marsh, Joseph A.
Greene, Philip
Murina, Olga
Uggenti, Carolina
Leitch, Andrea
Kaposzta, Rita
Mero, Gabriella
Nagy, Andrea
Orlik, Brigitta
Kovacs-Paszthy, Balazs
Quigley, Alan J.
Riszter, Magdolna
Rankin, Julia
Reijns, Martin A. M.
Szakszon, Katalin
Jackson, Andrew P.
Scottish Genomes Partnership
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC

4

A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy

학술저널

issue: NEUROMUSCULAR DISORDERS; FEB 2018, 28 2, p129-p136, 8p.
Author: Koczok, Katalin
Mero, Gabriella
Szabo, Gabriella P.
Madar, Laszlo
Gombos, Eva
Ajzner, Eva
Motyan, Janos Andras
Hortobagyi, Tibor
Balogh, Istvan
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (ScienceDirect) Full Text (Clinical Key) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

5

Long-lasting partial remission by interferon-alpha treatment in a child with essential Thrombocythemia

학술저널

issue: PEDIATRIC BLOOD & CANCER; OCT 15 2007, 49 5, p744-p747, 4p.
Author: Szegedi, IstvIin
Benkib, Ilona
Mero, Gabriella
Prinzinger, Agota
Kappelmayer, Janos
Kiss, Csongor
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (Wiley-DB) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - RISS

6

Deletion 15q26 syndrome

학술저널

issue: ORVOSI HETILAP; MAR 2014, 155 9, p362-p364, 3p.
Author: Szakszon Katalin
Ujfalusi Aniko
Balogh Erzsebet
Mogyorosy Gabor
Felszeghy Eniko
Szilvassy Judit
Horkay Edit
Berenyi Ervin
Mero Gabriella
Knegt, Alide C.
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

1

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