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Publications by Pablo Lapunzina

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

American Journal of Human Genetics

English

Pitfalls of Trio-Based Exome Sequencing: Imprinted Genes and Parental Mosaicism—MAGEL2 as an Example

Genetics in Medicine

English

Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta

English

NOTCH2mutations in Alagille Syndrome

Journal of Medical Genetics

English

Front Cover

Clinical Genetics

English

Molecular Diagnosis of Beckwith-Wiedemann Syndrome Using Quantitative Methylation-Sensitive Polymerase Chain Reaction

Genetics in Medicine

English