RESEARCH ARTICLE Open Access Diagnosis of Noonan syndrome and related disorders using target next generation sequencing Francesca Romana Lepri1*, Rossana Scavelli2, Maria
Expert consensus guidelines for the genetic diagnosis of Alport syndromeSee discussions, stats, and author profiles for this publication at: https://www.researchgate.net/publication/326276013
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutationShort communication Alternating Hemiplegia and Epilepsia Partialis
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report studyCASE REPORT Open Access NGS in argininosuccinic aciduria
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report studyCASE REPORT Open Access NGS in argininosuccinic aciduria
An update of molecular pathology of bone tumors. Lessons learned from investigating samples by next generation sequencinglearned from investigating samples by next generation
Received: November 23, 2020 Accepted: November 23, 2020 Correspondence Mariz Vainzof Human Genome and Stem Cell Research Center, IBUSP, Rua do Matão 106, Cidade Universitária,
A NOVEL DISEASE-CAUSING NF1 VARIANT IN A CROATIAN FAMILY WITH NEUROFIBROMATOSIS TYPE 1ORIGINAL ARTICLE WITH NEUROFIBROMATOSIS TYPE 1 Kristina Gotovac Jercic1, Tamara Zigman2,
Fetal hydrops and the Incremental yield of Next generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysisprenatal
Minimal Residual Disease in Acute Lymphoblastic Leukemia: Current Practice and Future DirectionsMinimal Residual Disease in Acute Lymphoblastic Leukemia: Current Practice