molecular spectrum Latest Research Papers

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

Human Mutation ◽

10.1002/humu.24330 ◽

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

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Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Human Mutation ◽

10.1002/humu.24326 ◽

2022 ◽

Author(s):

Marcello Scala ◽

Saskia B. Wortmann ◽

Namik Kaya ◽

Menno D. Stellingwerff ◽

Angela Pistorio ◽

...

Keyword(s):

Prognostic Factors ◽

Epileptic Encephalopathy ◽

Molecular Spectrum ◽

Radiological Features ◽

Inosine Triphosphate Pyrophosphatase

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

Histopathology ◽

10.1111/his.14545 ◽

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

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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

Acta Neuropathologica ◽

10.1007/s00401-021-02396-y ◽

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

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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation ◽

10.1002/humu.24308 ◽

2021 ◽

Author(s):

Smitha Kumble ◽

Amanda M. Levy ◽

Jaya Punetha ◽

Hua Gao ◽

Nicholas Ah Mew ◽

...

Keyword(s):

Neurodevelopmental Disorder ◽

Molecular Spectrum

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

Bone ◽

10.1016/j.bone.2021.116293 ◽

2021 ◽

pp. 116293

Author(s):

Beyhan Tüysüz ◽

Leyla Elkanova ◽

Dilek Uludağ Alkaya ◽

Çağrı Güleç ◽

Güven Toksoy ◽

...

Keyword(s):

Clinical Outcome ◽

Osteogenesis Imperfecta ◽

Molecular Spectrum

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

Hemoglobin ◽

10.1080/03630269.2021.1984250 ◽

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

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

Annals of Human Genetics ◽

10.1111/ahg.12449 ◽

2021 ◽

Author(s):

Gayatri R. Iyer ◽

Prashant Utage ◽

Radha Rama Devi ◽

Kiran Kumar Vattam ◽

Qurratulain Hasan

Keyword(s):

Angelman Syndrome ◽

Molecular Spectrum ◽

Sequencing Studies

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

Journal of Molecular Neuroscience ◽

10.1007/s12031-021-01933-4 ◽

2021 ◽

Author(s):

Malihe Mohamadian ◽

Mandana Rastegar ◽

Negin Pasamanesh ◽

Ata Ghadiri ◽

Pegah Ghandil ◽

...

Keyword(s):

Intellectual Disability ◽

Molecular Spectrum ◽

Muscular Dystrophies ◽

Comprehensive Overview

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

Journal of the Neurological Sciences ◽

10.1016/j.jns.2021.118277 ◽

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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molecular spectrum
Recently Published Documents

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H-INDEX

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

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

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

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

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

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

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

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

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

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

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molecular spectrumRecently Published Documents

TOTAL DOCUMENTS

H-INDEX

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

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

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

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

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

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

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

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

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

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

molecular spectrum
Recently Published Documents