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1 . Academic Journal
Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations.
저자
by
Saghafi, Shiva
;
Zandieh, Fariborz
;
Fazlollahi, Mohammad Reza
;
Glocker, Cristina
;
Frede, Natalie
, et al.
소스
Iranian Journal of Allergy, Asthma & Immunology
. Jun2022, Vol. 21 Issue 3, p355-363. 9p.
Web of Science
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7 . Academic Journal
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
저자
by
Frede, Natalie
;
Rojas-Restrepo, Jessica
;
Caballero Garcia de Oteyza, Andrés
;
Buchta, Mary
;
Hübscher, Katrin
, et al.
소스
Journal of Clinical Immunology
. Nov2021, Vol. 41 Issue 8, p1804-1838. 35p.
Web of Science
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7 . Academic Journal
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
저자
by
Petersen, Britt-Sabina
;
August, Dietrich
;
Abt, Renate
;
Alddafari, Moudjahed
;
Atarod, Lida
, et al.
소스
Inflammatory Bowel Diseases; Dec2017, Vol. 23 Issue 12, p2109-2120, 12p
Full Text (OUP)
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7 . Academic Journal
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.
저자
by
Schepp, Johanna
;
Proietti, Michele
;
Frede, Natalie
;
Buchta, Mary
;
Hübscher, Katrin
, et al.
소스
Arthritis & Rheumatology
. Aug2017, Vol. 69 Issue 8, p1689-1700. 12p.
Full Text (Wiley)
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7 . Academic Journal
An Overview on Hyper IgE Syndrome Patients Detected in Immunology, Asthma and Allergy Research Institute (2012-2015).
저자
by
Saghafi, Shiva
;
Fazlollahi, Mohammad Reza
;
Houshmand, Massoud
;
Movahedi, Massoud
;
Ali Hamidieh, Amir
, et al.
소스
Iranian Journal of Allergy, Asthma & Immunology
. 2018 Supplement, Vol. 17, p40-42. 3p.
Web of Science
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7 . Academic Journal
Capturing the experience: Lessons of consumers and carers in rural mental health education.
저자
by
McGarry, Denise
;
Andrews, Neil
;
Buchta, Mary
;
Kent, Kathryn
;
McFarlane, Chris
, et al.
소스
Australasian Journal of Paramedicine; 2015, Vol. 12 Issue 1, p1-6, 6p
Full Text (Sage OA)
Scopus
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7 . Academic Journal
Predictors and Prevalence of Paraganglioma Syndrome Associated With Mutations of the SDHC Gene.
저자
by
Schiavi, Francesca
;
Boedeker, Carsten C.
;
Bausch, Birke
;
Peçzkowska, Mariola
;
Gomez, Clara Fuentes
, et al.
소스
JAMA: Journal of the American Medical Association
. 10/26/2005, Vol. 294 Issue 16, p2057-2063. 7p. 1 Black and White Photograph, 5 Charts.
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7 . Academic Journal
Distinct Clinical Features of Paraganglioma Syndromes Associated With SDHB and SDHD Gene Mutations.
저자
by
Neumann, Hartmut P. H.
;
Pawlu, Christian
;
Pęczkowska, Mariola
;
Bausch, Birke
;
McWhinney, Sarah R.
, et al.
소스
JAMA: Journal of the American Medical Association
. 8/25/2004, Vol. 292 Issue 8, p943-951. 9p.
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7 . Academic Journal
Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma.
저자
by
Vanharanta, Sakari
;
Buchta, Mary
;
McWhinney, Sarah R.
;
Virta, Sanna K.
;
Peçzkowska, Mariola
, et al.
소스
American Journal of Human Genetics
. Jan2004, Vol. 74 Issue 1, p153-159. 7p.
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7 . Academic Journal
Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects
저자
by
Stepensky, Polina
;
Keller, Baerbel
;
Buchta, Mary
;
Kienzler, Anne-Kathrin
;
Elpeleg, Orly
, et al.
소스
The Journal of Allergy and Clinical Immunology
. Feb 01, 2013 131(2):477-485e1
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