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Search Results - Iurașcu, Marius-Ionuț
Search Results - Iurașcu, Marius-Ionuț
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Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
by
Dinur, Tama
,
Bauer, Peter
,
Beetz, Christian
,
Kramp, Guido
,
Cozma, Claudia
,
Iurașcu, Marius-Ionuț
,
Becker-Cohen, Michal
,
Istaiti, Majdolen
,
Rolfs, Arndt
,
Zimran, Ari
,
Revel-Vilk, Shoshana
Published in
International journal of molecular sciences
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Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
by
Bertoli-Avella, Aida M
,
Beetz, Christian
,
Ameziane, Najim
,
Rocha, Maria Eugenia
,
Guatibonza, Pilar
,
Pereira, Catarina
,
Calvo, Maria
,
Herrera-Ordonez, Natalia
,
Segura-Castel, Monica
,
Diego-Alvarez, Dan
,
Zawada, Michal
,
Kandaswamy, Krishna K
,
Werber, Martin
,
Paknia, Omid
,
Zielske, Susan
,
Ugrinovski, Dimitar
,
Warnack, Gitte
,
Kampe, Kapil
,
Iurașcu, Marius-Ionuț
,
Cozma, Claudia
,
Vogel, Florian
,
Alhashem, Amal
,
Hertecant, Jozef
,
Al-Shamsi, Aisha M
,
Alswaid, Abdulrahman Faiz
,
Eyaid, Wafaa
,
Al Mutairi, Fuad
,
Alfares, Ahmed
,
Albalwi, Mohammed A
,
Alfadhel, Majid
,
Al-Sannaa, Nouriya Abbas
,
Reardon, Willie
,
Alanay, Yasemin
,
Rolfs, Arndt
,
Bauer, Peter
Published in
European journal of human genetics : EJHG
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C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
by
Cozma, Claudia
,
Iurașcu, Marius-Ionuț
,
Eichler, Sabrina
,
Hovakimyan, Marina
,
Brandau, Oliver
,
Zielke, Susanne
,
Böttcher, Tobias
,
Giese, Anne-Katrin
,
Lukas, Jan
,
Rolfs, Arndt
Published in
Scientific reports
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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
by
Cozma, Claudia
,
Hovakimyan, Marina
,
Iurașcu, Marius-Ionuț
,
Makhseed, Nawal
,
Selim, Laila A
,
Alhashem, Amal M
,
Ben-Omran, Tawfeg
,
Mahmoud, Iman G
,
Al Menabawy, Nihal M
,
Al-Mureikhi, Mariam
,
Martin, Magi
,
Demuth, Laura
,
Yüksel, Zafer
,
Beetz, Christian
,
Bauer, Peter
,
Rolfs, Arndt
Published in
Orphanet journal of rare diseases
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Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema
by
Iuraşcu, Marius‐Ionuţ
,
Balla, Zsuzsanna
,
Pereira, Catarina
,
Andrási, Noémi
,
Varga, Lilian
,
Csuka, Dorottya
,
Szilágyi, Ágnes
,
Tripolszki, Kornelia
,
Khan, Suliman
,
Susnea, Iuliana
,
Bauer, Peter
,
Cozma, Claudia
,
Farkas, Henriette
Published in
Clinical and translational allergy
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At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
by
Guatibonza Moreno, Pilar
,
Pardo, Luba M
,
Pereira, Catarina
,
Schroeder, Sabine
,
Vagiri, Deepthi
,
Almeida, Ligia S
,
Juaristi, Carlos
,
Hosny, Heba
,
Loh, Clarice C Y
,
Leubauer, Anika
,
Torres Morales, Galina
,
Oppermann, Sebastian
,
Iurașcu, Marius-Ionuț
,
Fischer, Steffen
,
Steinicke, Tara-Marisa
,
Viceconte, Nikenza
,
Cozma, Claudia
,
Kandaswamy, Krishna Kumar
,
Pinto Basto, Jorge
,
Böttcher, Tobias
,
Bauer, Peter
,
Bertoli-Avella, Aida
Published in
European journal of human genetics : EJHG
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An HLA-B27 Homodimer Specific Antibody Recognizes a Discontinuous Mixed-Disulfide Epitope as Identified by Affinity-Mass Spectrometry
by
Iuraşcu, Marius-Ionuţ
,
Marroquin Belaunzanar, Osiris
,
Cozma, Claudia
,
Petrausch, Ulf
,
Renner, Christoph
,
Przybylski, Michael
Published in
Journal of the American Society for Mass Spectrometry
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Structural characterization of ß-amyloid oligomer-aggregates by ion mobility mass spectrometry and electron spin resonance spectroscopy
by
Ionuţ Iuraşcu, Marius
,
Cozma, Claudia
,
Tomczyk, Nick
,
Rontree, John
,
Desor, Michael
,
Drescher, Malte
,
Przybylski, Michael
Published in
Analytical & bioanalytical chemistry (Print)
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Structural characterization of beta-amyloid oligomer-aggregates by ion mobility mass spectrometry and electron spin resonance spectroscopy
by
Ionuţ Iuraşcu, Marius
,
Cozma, Claudia
,
Tomczyk, Nick
,
Rontree, John
,
Desor, Michael
,
Drescher, Malte
,
Przybylski, Michael
Published in
Analytical and bioanalytical chemistry
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