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Açık Erişim@BUU
Browsing by Author Maher, E. R.
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Showing results 1 to 3 of 3
Issue Date
Title
Author(s)
2006-09
The calcium-independent phospholipase A2 gene, PLA2G6, is mutated in a spectrum of childhood neurodegenerative disorders with high brain iron
Morgan, Neil
;
Westaway, Shawn K.
;
Morton, Jenny
;
Gregory, Allison
;
Gissen, Paul
;
Sonek, S.
;
Coryell, Jessi L.
;
Canham, N.
;
Nardocci, Nardo
;
Zorzi, Giovanna
;
Pasha, Shanaz
;
Rodriguez, D.
;
Desguerre, Isabelle
;
Mubaidin, A.
;
Bertini, Enrico
;
Trembath, Richard C.
;
Simonati, A.
;
Schanen, Carolyn
;
Johnson, Colin A.
;
Levinson, B.
;
Woods, Christopherg
;
Wilmot, Brett
;
Kramer, P.
;
Gitschier, J.
;
Hayflick, Susan J.
;
Maher, E. R.
;
Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.
;
Cangül, H.
2009-09
Genetic heterogeneity in congenital hypothyroidism
Morgan, Neil V.
;
Pasha, Shanaz
;
Kirby, Gail
;
Hoegler, Wolfgang
;
Barrett, Timothy
;
Maher, E. R.
;
Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.
;
Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.
;
0000-0003-0710-5422
;
0000-0002-1684-1053
;
Cangül, Hakan
;
Karkucak, Mutlu
;
Eren, Erdal
;
Yakut, Tahsin
;
Sağlam, Halil
;
Tarım, Ömer
;
AAM-1734-2020
;
AAH-1155-2021
;
C-7392-2019
2010-09
Locus heterogeneity and novel TSHR mutations in consanguineous families with congenital non-goitrous hypothyroidism
Cangül, Hakan
;
Aycan, Zehra
;
Morgan, Neil
;
Forman, Julia
;
Çetinkaya, Semra
;
Baş, Veysel
;
Demir, Korcan
;
Yuca, Sevil Arı
;
Kirby, Gail
;
Pasha, Shanaz
;
Kendall, Michaela
;
Hoegler, Wolfgang
;
Barret, T. G.
;
Maher, E. R.
;
Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.
;
Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.
;
0000-0003-0710-5422
;
0000-0002-1684-1053
;
Sağlam, Halil
;
Yakut, Tahsin
;
Gülten, Tuna
;
Karkucak, Mutlu
;
Eren, Erdal
;
C-7392-2019
;
AAM-1734-2020