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NARA Subscribed2
Publisher
Springer Nature2
Journal
Human Genetics1
The Cerebellum1
Publication Year
20241
19971
Haluk Topaloglu results 2 · Newest (Page 1/1, per page 25)
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Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National StudyNARA Subscribed
The Cerebellum · 2024 · Vol. 23 · Issue 5 · Springer
Dilek Cavusoglu; Gulten Ozturk; Dilsad Turkdogan; Semra Hiz Kurul; Uluc Yis; Mustafa Komur; Faruk Incecik; Bulent Kara; Turkan Sahin; Olcay Unver; Cengiz Dilber; Gulen Gul Mert; Cagatay Gunay; Gamze Sarikaya Uzan; Ozlem Ersoy; Yavuz Oktay; Serdar Mermer; Gokcen Oz Tuncer; Olcay Gungor; Gul Demet Kaya Ozcora; Ugur Gumus; Ozlem Sezer; Gokhan Ozan Cetin; Fatma Demir; Arzu Yilmaz; Gurkan Gurbuz; Meral Topcu; Haluk Topaloglu; Ahmet Cevdet Ceylan; Serdar Ceylaner; Joseph G. Gleeson; Dilara Fusun Icagasioglu; F. Mujgan Sonmez
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patient...
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The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophyNARA Subscribed
Human Genetics · 1997 · Vol. 99 · Issue 4 · Springer
Isam Naom; Mariella D'Alessandro; Caroline Sewry; Alessandra Ferlini; Haluk Topaloglu; Anne Helbling-Leclerc; Pascale Guicheney; Ketty Schwartz; Zuhal Akcoren; Victor Dubowitz; F. Muntoni
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