molecular spectrum
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Expanding the phenotypic and molecular spectrum of NFS1 ‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron‐sulfur cluster containing enzymes

2022 ◽  
Author(s):  
Jennifer H. Yang ◽  
Marisa W. Friederich ◽  
Katarzyna A. Ellsworth ◽  
Aliya Frederick ◽  
Emily Foreman ◽  
...  
Keyword(s):  
Molecular Spectrum ◽  
Iron Sulfur Cluster ◽  
Sulfur Cluster ◽  
Iron Sulfur

scholarly journals Primary de‐differentiated, trans‐differentiated and undifferentiated melanomas: overview of the clinicopathological, immunohistochemical and molecular spectrum

2021 ◽  
Vol 80 (1) ◽  
pp. 135-149
Author(s):  
Ingrid Ferreira ◽  
Mark J Arends ◽  
Louise Weyden ◽  
David J Adams ◽  
Thomas Brenn
Keyword(s):  
Molecular Spectrum

scholarly journals Activating NTRK2 and ALK receptor tyrosine kinase fusions extend the molecular spectrum of pleomorphic xanthoastrocytomas of early childhood: a diagnostic overlap with infant-type hemispheric glioma

2021 ◽  
Author(s):  
Calixto-Hope G. Lucas ◽  
Zied Abdullaev ◽  
Carol S. Bruggers ◽  
Kanish Mirchia ◽  
Nicholas S. Whipple ◽  
...  
Keyword(s):  
Early Childhood ◽  
Tyrosine Kinase ◽  
Receptor Tyrosine Kinase ◽  
Molecular Spectrum

scholarly journals The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

2021 ◽  
Author(s):  
Smitha Kumble ◽  
Amanda M. Levy ◽  
Jaya Punetha ◽  
Hua Gao ◽  
Nicholas Ah Mew ◽  
...  
Keyword(s):  
Neurodevelopmental Disorder ◽  
Molecular Spectrum

Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants

Bone ◽  
2021 ◽  
pp. 116293
Author(s):  
Beyhan Tüysüz ◽  
Leyla Elkanova ◽  
Dilek Uludağ Alkaya ◽  
Çağrı Güleç ◽  
Güven Toksoy ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Osteogenesis Imperfecta ◽  
Molecular Spectrum

Updated Molecular Spectrum of β-Thalassemia Mutations in Duhok Province, Northern Iraq: Ethnic Variation and the Impact of Immigration

Hemoglobin ◽  
2021 ◽  
pp. 1-6
Author(s):  
Sulav D. Atroshi ◽  
Nasir A.S. Al-Allawi ◽  
Adil A. Eissa
Keyword(s):  
Molecular Spectrum ◽  
Ethnic Variation ◽  
Northern Iraq ◽  
The Impact

Expanding the clinico‐molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies

2021 ◽  
Author(s):  
Gayatri R. Iyer ◽  
Prashant Utage ◽  
Radha Rama Devi ◽  
Kiran Kumar Vattam ◽  
Qurratulain Hasan
Keyword(s):  
Angelman Syndrome ◽  
Molecular Spectrum ◽  
Sequencing Studies

Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview

2021 ◽  
Author(s):  
Malihe Mohamadian ◽  
Mandana Rastegar ◽  
Negin Pasamanesh ◽  
Ata Ghadiri ◽  
Pegah Ghandil ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Molecular Spectrum ◽  
Muscular Dystrophies ◽  
Comprehensive Overview

Neurofibromatosis type 1: Molecular spectrum of the NF1 mutations in a large cohort of adult Italian patients

2021 ◽  
Vol 429 ◽  
pp. 118277
Author(s):  
Filomena Napolitano ◽  
Milena Dell'Aquila ◽  
Giuseppina Franzese ◽  
Chiara Terracciano ◽  
Simone Sampaolo ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Large Cohort ◽  
Molecular Spectrum
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