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Search Results - Bertoli-Avella, A.M.
Search Results - Bertoli-Avella, A.M.
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Identification and analysis of a SMAD3 cis -acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome
by
Raine, E.V.A
,
Reynard, L.N
,
van de Laar, I.M.B.H
,
Bertoli-Avella, A.M
,
Loughlin, J
Published in
Osteoarthritis and cartilage
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Defective Connective Tissue Remodeling in Smad3 Mice Leads to Accelerated Aneurysmal Growth Through Disturbed Downstream TGF-β Signaling
by
van der Pluijm, I.
,
van Vliet, N.
,
von der Thusen, J.H.
,
Robertus, J.L.
,
Ridwan, Y.
,
van Heijningen, P.M.
,
van Thiel, B.S.
,
Vermeij, M.
,
Hoeks, S.E.
,
Buijs-Offerman, R.M.G.B.
,
Verhagen, H.J.M.
,
Kanaar, R.
,
Bertoli-Avella, A.M.
,
Essers, J.
Published in
EBioMedicine
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A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children
by
Yavuz, H.
,
Bertoli‐Avella, A.M.
,
Alfadhel, M.
,
Al‐Sannaa, N.
,
Kandaswamy, K.K.
,
Al‐Tuwaijri, W.
,
Rolfs, A.
,
Brandau, O.
,
Bauer, P.
Published in
Clinical genetics
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Expanding the clinical and genetic spectra of NKX6‐2‐related disorder
by
Baldi, C.
,
Bertoli‐Avella, A.M.
,
Al‐Sannaa, N.
,
Alfadhel, M.
,
Al‐Thihli, K.
,
Alameer, S.
,
Elmonairy, A.A.
,
Al Shamsi, A.M.
,
Abdelrahman, H.A.
,
Al‐Gazali, L.
,
Shawli, A.
,
Al‐Hakami, F.
,
Yavuz, H.
,
Kandaswamy, K.K.
,
Rolfs, A.
,
Brandau, O.
,
Bauer, P.
Published in
Clinical genetics
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G.P.1.13 A new locus for distal hereditary motor neuronopathy maps to chromosome 16p
by
Brusse, E
,
Majoor-Krakauer, D
,
Graaf, B.M. De
,
Visser, G.H
,
Boon, A.J.W
,
Oostra, B.A
,
Bertoli-Avella, A.M
Published in
Neuromuscular disorders : NMD
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A mutation in the acyl‐coenzyme A binding domain‐containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia
by
PUNZO, F.
,
MIENTJES, E. J.
,
ROHE, C. F.
,
SCIANGUETTA, S.
,
AMENDOLA, G.
,
OOSTRA, B. A.
,
BERTOLI‐AVELLA, A. M.
,
PERROTTA, S.
Published in
Journal of thrombosis and haemostasis
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A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus
by
Oldenburg, R.A.
,
van Dooren, M.F.
,
de Graaf, B.
,
Simons, E.
,
Govaerts, L.
,
Swagemakers, S.
,
Verkerk, J.M.H.
,
Oostra, B.A.
,
Bertoli-Avella, A.M.
Published in
Human reproduction (Oxford)
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The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
by
Alfadhel, Majid
,
Almuqbil, Mohammed
,
Al Mutairi, Fuad
,
Umair, Muhammad
,
Almannai, Mohammed
,
Alghamdi, Malak
,
Althiyab, Hamad
,
Albarakati, Rayyan
,
Bashiri, Fahad A.
,
Alshuaibi, Walaa
,
Ba-Armah, Duaa
,
Saleh, Mohammed A.
,
Al-Asmari, Ali
,
Faqeih, Eissa
,
Altuwaijri, Waleed
,
Al-Rumayyan, Ahmed
,
Balwi, Mohammed Ali
,
Ababneh, Faroug
,
Alswaid, Abdulrahman Faiz
,
Eyaid, Wafaa M.
,
Almontashiri, Naif A. M.
,
Alhashem, Amal
,
Hundallah, Khalid
,
Bertoli-Avella, Aida
,
Bauer, Peter
,
Beetz, Christian
,
Alrifai, Muhammad Talal
,
Alfares, Ahmed
,
Tabarki, Brahim
Published in
Frontiers in pediatrics
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Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
by
Faqeih, Eissa A.
,
Alghamdi, Malak Ali
,
Almahroos, Marwa A.
,
Alharby, Essa
,
Almuntashri, Makki
,
Alshangiti, Amnah M.
,
Clément, Prouteau
,
Calame, Daniel G.
,
Qebibo, Leila
,
Burglen, Lydie
,
Doco-Fenzy, Martine
,
Mastrangelo, Mario
,
Torella, Annalaura
,
Manti, Filippo
,
Nigro, Vincenzo
,
Alban, Ziegler
,
Alharbi, Ghadeer Saleh
,
Hashmi, Jamil Amjad
,
Alraddadi, Rawya
,
Alamri, Razan
,
Mitani, Tadahiro
,
Magalie, Barth
,
Coban-Akdemir, Zeynep
,
Geckinli, Bilgen Bilge
,
Pehlivan, Davut
,
Romito, Antonio
,
Karageorgou, Vasiliki
,
Martini, Javier
,
Colin, Estelle
,
Bonneau, Dominique
,
Bertoli-Avella, Aida
,
Lupski, James R.
,
Pastore, Annalisa
,
Peake, Roy W.A.
,
Dallol, Ashraf
,
Alfadhel, Majid
,
Almontashiri, Naif A.M.
Published in
Genetics in medicine
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Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the netherlands
by
BERTOLI-AVELLA, Aida M
,
DEKKER, Marieke C. J
,
BONIFATI, Vincenzo
,
HEUTINK, Peter
,
VAN DUIJN, Cornelia M
,
OOSTRA, Ben A
,
AULCHENKO, Yurii S
,
HOUWING-DUISTERMAAT, Jeanine J
,
SIMONS, Erik
,
TESTERS, Leon
,
PARDO, Luba M
,
RADEMAKER, Tessa A. M
,
SNIJDERS, Pieter J. L. M
,
VAN SWIETEN, John C
Published in
Human genetics
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