LTβR deficiency causes lymph node aplasia and impaired B cell differentiation
Bernhard Ransmayr, Sevgi Köstel Bal, Marini Thian, Michael Svaton, Cheryl van de Wetering et al.
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The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient
Dilşad Türkdoğan, Natalia Smolina, Şeyma Tekgül, Tuğçe Gül, Ahmet Yeşilyurt et al.
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality and disrupt mitochondrial function
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Jose A Rodriguez, Annarita Scardamaglia et al.
Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations
Didem Helvacioglu, Aylin Tugba Canbaz, Aysel Tekmenuray-Unal, Yasin Ada, Ozge Yapici et al.
A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review
Maria Tzetis, Anastasios Mitrakos, Ioanna Papathanasiou, Vasiliki Koute, Konstantina Kosma et al.
The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes
Semra Gürsoy, Ceren Yılmaz Uzman, Kadri Murat Erdoğan, Pakize Karaoğlu, Tuba Sözen Türk et al
Phenotypic variability in cases with CACNA1A mutation
Sema Bozkaya-Yilmaz, Nihal Olgac-Dundar, Yasar Bekir Kutbay, Berk Ozyilmaz, Bulent Kara et al.
Apparent efficacy of NMDAR antagonist use as a targeted therapy for status epilepticus in an infant with ATP1A2-related developmental epileptic encephalopathy
Leman Tekin Orgun, Adnan Deniz, Ayfer Sakarya Güneş, Gökçe Cırdı, Bülent Kara et al.