Publication & Citation Trends
Publications
0 total
[Sjögren-Larsson syndrome: Pediatric case report]. OA
Cited by 0
Semantic Scholar
Broadening the phenotypic spectrum of POP1‐skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia OA
Cited by 22
Semantic Scholar
FGF9 mutation causes craniosynostosis along with multiple synostoses OA
Cited by 29
Semantic Scholar
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature OA
Cited by 9
Semantic Scholar
Supplementary Material for: Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature
Cited by 0
Semantic Scholar
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.
Cited by 9
Semantic Scholar
Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported
Cited by 11
Semantic Scholar
High Success of a Next Generation Sequencing Panel for the Molecular Diagnosis of Rare Skeletal Dysplasias
Cited by 0
Semantic Scholar
Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements
Cited by 13
Semantic Scholar
Reply to the article entitled “Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report” by Galbiati et al., Clin Chem Lab Med 2014;52(4):505–9
Cited by 1
Semantic Scholar
Research Topics
Craniofacial Disorders and Treatments
(7)
Cleft Lip and Palate Research
(6)
Connective tissue disorders research
(5)
Genomic variations and chromosomal abnormalities
(3)
Skin and Cellular Biology Research
(3)
Affiliations
Hospital Universitario La Paz
Instituto Nacional de Perinatología
Institute of Molecular Genetics
Instituto de Medicina Genómica
Universidad Autónoma de Madrid