Marisol del Rosario

Research Topics

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  • Signs and Symptoms
  • Diseases

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Co-author network

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Publications

Top 5
# Referenced

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

2013: EM Bongers; HG Brunner; AP de Brouwer; J de Ligt; BB de Vries; M del Rosario; P Failla; M Fichera; O Galesi; C Gilissen; MT Greally; D Greco; JY Hehir-Kwa; G Hira; IM Janssen; T Kleefstra; K Neveling; CW Ockeloen; R Pfundt; S Reitano; C Romano; JH Schuurs-Hoeijmakers; H van Bokhoven; BW van Bon; II van de Vondervoort; JA Veltman; LE Vissers; A Vitello; AT Vulto-van Silfhout; MH Willemsen; MA Willemsen;

Mining for single nucleotide polymorphisms in pig genome sequence data.

2009: RP Crooijmans; M del Rosario; B Dibbits; MA Groenen; HH Kerstens; SM Kinders; S Kollers; A Kommadath;

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

2011: L Bonafé; HG Brunner; AB Campos-Xavier; M del Rosario; C Gilissen; U Knoll; E Lausch; M Nair; S Nampoothiri; A Rossi; J Spranger; A Superti-Furga; S Unger; JA Veltman; H Venselaar; LE Vissers; B Zabel;

Diagnostic exome sequencing in persons with severe intellectual disability.

2012: HG Brunner; J de Ligt; BB de Vries; P de Vries; M del Rosario; C Gilissen; A Hoischen; T Kleefstra; DA Koolen; T Kroes; H Scheffer; BW van Bon; JA Veltman; LE Vissers; AT Vulto-van Silfhout; MH Willemsen; HG Yntema;

A de novo paradigm for mental retardation.

2010: P Arts; HG Brunner; J de Ligt; BB de Vries; P de Vries; M del Rosario; C Gilissen; A Hoischen; I Janssen; M Steehouwer; BW van Bon; B van Lier; JA Veltman; LE Vissers; N Wieskamp;

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Title and Abstract from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
Data mined from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
Last MEDLINE®/PubMed® update: 1st of December 2015