مکتبة رقمیه للعلوم الطبيه
Your cart is empty.
  • Cart
  • Lists
    Your lists Log in to create your own lists
  • Log in to your account
  • Your cookies
  • Search history
  • Advanced search
  • Authority search
  • Tag cloud
  • Library

Log in to your account

  1. Home
  2. Details for: Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
Normal view MARC view ISBD view

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. [electronic resource]

By:
  • Van Montfrans, Joris M
Contributor(s):
  • Hartman, Esther A R
  • Braun, Kees P J
  • Hennekam, Eric A M
  • Hak, Elisabeth A
  • Nederkoorn, Paul J
  • Westendorp, Willeke F
  • Bredius, Robbert G M
  • Kollen, Wouter J W
  • Schölvinck, Elisabeth H
  • Legger, G Elizabeth
  • Meyts, Isabelle
  • Liston, Adrian
  • Lichtenbelt, Klaske D
  • Giltay, Jacques C
  • Van Haaften, Gijs
  • De Vries Simons, Gaby M
  • Leavis, Helen
  • Sanders, Cornelis J G
  • Bierings, Marc B
  • Nierkens, Stefan
  • Van Gijn, Marielle E
Producer: 20160830Description: 902-10 p. digitalISSN:
  • 1462-0332
Subject(s):
  • Adenosine Deaminase -- blood
  • Agammaglobulinemia -- drug therapy
  • Child
  • Child, Preschool
  • Female
  • Founder Effect
  • Haplotypes
  • Homozygote
  • Humans
  • Immunosuppressive Agents -- therapeutic use
  • Infant
  • Infant, Newborn
  • Intercellular Signaling Peptides and Proteins -- blood
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Severe Combined Immunodeficiency -- drug therapy
Online resources:
  • Available from publisher's website
In: Rheumatology (Oxford, England) vol. 55
Tags from this library: No tags from this library for this title. Log in to add tags.
Star ratings
    Cancel rating. Average rating: 0.0 (0 votes)
  • Holdings ( 0 )
  • Title notes ( 1 )
  • Comments ( 0 )
No physical items for this record

Publication Type: Journal Article; Multicenter Study

There are no comments on this title.

Log in to your account to post a comment.

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

APA

Van Montfrans J. M., Hartman E. A. R., Braun K. P. J., Hennekam E. A. M., Hak E. A., Nederkoorn P. J., Westendorp W. F., Bredius R. G. M., Kollen W. J. W., Schölvinck E. H., Legger G. E., Meyts I., Liston A., Lichtenbelt K. D., Giltay J. C., Van Haaften G., De Vries Simons G. M., Leavis H., Sanders C. J. G., Bierings M. B., Nierkens S. & Van Gijn M. E. (20160830). Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. : Rheumatology (Oxford, England).

Chicago

Van Montfrans Joris M, Hartman Esther A R, Braun Kees P J, Hennekam Eric A M, Hak Elisabeth A, Nederkoorn Paul J, Westendorp Willeke F, Bredius Robbert G M, Kollen Wouter J W, Schölvinck Elisabeth H, Legger G Elizabeth, Meyts Isabelle, Liston Adrian, Lichtenbelt Klaske D, Giltay Jacques C, Van Haaften Gijs, De Vries Simons Gaby M, Leavis Helen, Sanders Cornelis J G, Bierings Marc B, Nierkens Stefan and Van Gijn Marielle E. 20160830. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. : Rheumatology (Oxford, England).

Harvard

Van Montfrans J. M., Hartman E. A. R., Braun K. P. J., Hennekam E. A. M., Hak E. A., Nederkoorn P. J., Westendorp W. F., Bredius R. G. M., Kollen W. J. W., Schölvinck E. H., Legger G. E., Meyts I., Liston A., Lichtenbelt K. D., Giltay J. C., Van Haaften G., De Vries Simons G. M., Leavis H., Sanders C. J. G., Bierings M. B., Nierkens S. and Van Gijn M. E. (20160830). Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. : Rheumatology (Oxford, England).

MLA

Van Montfrans Joris M, Hartman Esther A R, Braun Kees P J, Hennekam Eric A M, Hak Elisabeth A, Nederkoorn Paul J, Westendorp Willeke F, Bredius Robbert G M, Kollen Wouter J W, Schölvinck Elisabeth H, Legger G Elizabeth, Meyts Isabelle, Liston Adrian, Lichtenbelt Klaske D, Giltay Jacques C, Van Haaften Gijs, De Vries Simons Gaby M, Leavis Helen, Sanders Cornelis J G, Bierings Marc B, Nierkens Stefan and Van Gijn Marielle E. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. : Rheumatology (Oxford, England). 20160830.

  • Print
  • Cite
  • Add to your cart (remove)
  • Save record
    BIBTEX Dublin Core MARCXML MARC (non-Unicode/MARC-8) MARC (Unicode/UTF-8) MARC (Unicode/UTF-8, Standard) MODS (XML) RIS ISBD
  • More searches
    Search for this title in:
    Other Libraries (WorldCat) Other Databases (Google Scholar) Online Stores (Bookfinder.com) Open Library (openlibrary.org)

Exporting to Dublin Core...

Visit web site