author-photo

Maysoon Alsagob

16

Papers

208

Citations

Citation Trend

Filter By

Papers (10) Sort By

Journal Conference Others

Hematological findings associated with TBCD‐related encephalopathy: expanding the phenotype

2021 Clinical Genetics
Show All
- Source
- Cite
- Save
Citations (0)
Delineating the phenotypes of early onset myopathy due to novel titin gene mutations

2019 Journal of the Neurological Sciences
Show All
- Source
- Cite
- Save
Citations (0)
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

2019 Molecular Cytogenetics
Show All
- Source
- Cite
- Save
Citations (2)
Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination

2019 European Journal of Neurology
Show All
- Source
- Cite
- Save
Citations (8)
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

2018 PLOS ONE
Show All
- Source
- Cite
- Save
Citations (12)
Identification of novel genomic imbalances in Saudi patients with congenital heart disease

2018 Molecular Cytogenetics
Show All
- Source
- Cite
- Save
Citations (3)
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases

2018 European Journal of Paediatric Neurology
Show All
- Source
- Cite
- Save
Citations (16)
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature

2018 The Cerebellum
Show All
- Source
- Cite
- Save
Citations (13)
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder

2015 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (69)
Genetics of autism spectrum disorder: an update on copy number variations leading to autism in the next generation sequencing era.

2015 Discovery Medicine
Show All
- Source
- Cite
- Save
Citations (7)