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.
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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.
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Thank you for your interest! You are here: Home Applications are now closed.. Thank you for your interest in the Genomize Bioinformatics Bootcamp! Applications for the Genomize Professional Bioinformatics Bootcamp are officially closed. We’re grateful for the interest and enthusiasm from all applicants. Our team will now begin the evaluation and selection process. Selected participants and…
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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.
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A Rare Case of Lhermitte Duclos Disease Associated with Somatic PTEN and Germline SUFU Variants
Özge Güngör, Aslı Ece Solmaz, Emin Karaca, Taner Akalın, Elif Bolat et al.
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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.
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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
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Genomize and Genomenon Partner to Empower Researchers and Clinicians with Comprehensive Genomic Insights
“This strategic partnership aligns with both companies’ missions to streamline genomic analysis by delivering cutting-edge solutions that accelerate discoveries and clinical decision-making. By leveraging Genomenon’s powerful datasets, Genomize users will gain access to deeper variant interpretation capabilities, driving innovation in personalized medicine.” Integration of Mastermind and Cancer Knowledgebase (CKB) Data To Drive Unprecedented Efficiency in…
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Phenotypic variability in cases with CACNA1A mutation
Sema Bozkaya-Yilmaz, Nihal Olgac-Dundar, Yasar Bekir Kutbay, Berk Ozyilmaz, Bulent Kara et al.
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