Concepedia

Mabel Segovia

MS

Statistics

Publications

7

Citations

304

H-Index

7

Active since

2003

Affiliations

Hospital Universitario La Paz(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Universidad Autónoma de Madrid

Centro de Investigación Biomédica en Red

Mabel Segovia is an author at Hospital Universitario La Paz specializing in medicine, genetics, and neurology.

Top concepts

Publications per year

2003–2020

7

Publications

7

Further delineation of Malan syndrome

Manuela Priolo, Denny Schanze, Katrin Tatton-Brown et al. · Human Mutation · 2018 · 75 citations · Full text

Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

Víctor Martínez‐Glez, Valeria Romanelli, María Ángeles Mori et al. · American Journal of Medical Genetics Part A · 2010 · 66 citations

Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

Jair Tenorio, Valeria Romanelli, Álex Martín-Trujillo et al. · American Journal of Medical Genetics Part A · 2016 · 38 citations · Full text

Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Paul A. Mulder, Ingrid D. C. van Balkom, Annemiek Landlust et al. · Journal of Intellectual Disability Research · 2020 · 33 citations · Full text

Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2

Joanna S. Zeiger, Jacqueline B. Hetmanski, Terri H. Beaty et al. · European Journal of Human Genetics · 2003 · 31 citations · Full text

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