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Publications by Mar O’Callaghan
Five New Cases of Syndromic Intellectual Disability Due to KAT6A Mutations: Widening the Molecular and Clinical Spectrum
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Related publications
Rare Non-Syndromic Intellectual Disability
Mutations in RAB39B in Individuals With Intellectual Disability, Autism Spectrum Disorder, and Macrocephaly
Molecular Autism
Psychiatry
Mental Health
Developmental Neuroscience
Developmental Biology
Molecular Biology
De Novo Mutations in FOXP1 in Cases With Intellectual Disability, Autism, and Language Impairment
American Journal of Human Genetics
Genetics
Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
American Journal of Human Genetics
Genetics
EstablishingSONin 21q22.11 as a Cause a New Syndromic Form of Intellectual Disability: Possible Contribution to Braddock-Carey Syndrome Phenotype
American Journal of Medical Genetics, Part A
Genetics
Erratum To: Clinical and Molecular Genetics of Neonatal Diabetes Due to Mutations in the Insulin Gene
Reviews in Endocrine and Metabolic Disorders
Endocrinology
Metabolism
Diabetes
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
Exons Deletion of CNKSR2 Gene Identified in X-Linked Syndromic Intellectual Disability
BMC Medical Genetics
Genetics
