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Mohammad Shboul

Agency for Science, Technology and Research

39

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The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study

2021
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Distinctive Spine Deformities in Patients with Hurler (IH) and Hurler-Scheie (I-H/S) Syndrome

2021
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Mitchell-Riley syndrome iPSC exhibit reduced pancreatic endoderm differentiation due to an RFX6 mutation.

2020 Development
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Recessive mutation in galnt3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis

2019 Turkish Journal of Pediatrics
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A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

2018 eLife
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Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

2018 European Journal of Medical Genetics
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Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS

2018 Cancer Cell
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Author response: A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

2018 eLife
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Mutated NS1-BP causes segmental premature ageing of skin and neural lineages

2017 Mechanisms of Development
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Gmnc Is a Master Regulator of the Multiciliated Cell Differentiation Program (vol 25, pg 3267, 2015)

2017 Current Biology
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