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Publications by Mohammed Basiruzzaman
Gonadal Mosaicism of Large Terminal De Novo Duplication and Deletion in Siblings With Variable Intellectual Disability Phenotypes
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Novel Mutations in Actionable Breast Cancer Genes by Targeted Sequencing in an Ethnically Homogenous Cohort
BMC Medical Genetics
Genetics
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Mosaicism of De Novo Pathogenic SCN1A Variants in Epilepsy Is a Frequent Phenomenon That Correlates With Variable Phenotypes
Epilepsia
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De Novo Mutations in FOXP1 in Cases With Intellectual Disability, Autism, and Language Impairment
American Journal of Human Genetics
Genetics
De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies
European Journal of Human Genetics
Genetics
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
Intellectual Disability and Dysmorphic Features in Male Siblings Arising From a Novel TAF1 Mutation
Congenital Anomalies
Child Health
Pediatrics
Perinatology
Medicine
Developmental Biology
Embryology
A De Novo 10.1-Mb 3p25 Terminal Deletion Including SETD5 in a Patient With Ptosis and Psychomotor Retardation
Pediatrics and Neonatology
Child Health
Pediatrics
Perinatology
The Importance of Understanding the Behavioural Phenotypes of Genetic Syndromes Associated With Intellectual Disability
Paediatrics and Child Health (United Kingdom)
Child Health
Pediatrics
Perinatology
