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1 . Academic Journal
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomesResearch in context
저자
by
Werner F. Blum
;
Jürgen Klammt
;
Serge Amselem
;
Heike M. Pfäffle
;
Marie Legendre
, et al.
소스
EBioMedicine, Vol 36, Iss , Pp 390-400 (2018)
Full Text (ScienceDirect)
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7 . Academic Journal
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
저자
by
Jürgen Klammt
;
David Neumann
;
Evelien F. Gevers
;
Shayne F. Andrew
;
I. David Schwartz
, et al.
소스
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
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7 . Academic Journal
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism
저자
by
Dennis Löffler
;
Susanne Behrendt
;
John W.M. Creemers
;
Jürgen Klammt
;
Gabriela Aust
, et al.
소스
Molecular Metabolism, Vol 6, Iss 3, Pp 295-305 (2017)
Full Text (ScienceDirect)
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7 . Academic Journal
Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly
저자
by
Dorit Schleinitz
;
Anna Seidel
;
Ruth Stassart
;
Jürgen Klammt
;
Petra G. Hirrlinger
, et al.
소스
Frontiers in Genetics, Vol 9 (2018)
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7 . Academic Journal
Type I plasminogen deficiency with unexpected clinical aspects: Could be more than coexistence?
저자
by
Şule Altıner
;
Jürgen Klammt
;
Matthias K. Bernhard
;
Volker Schuster
;
Halil Gürhan Karabulut
.
소스
Cogent Medicine, Vol 4, Iss 1 (2017)
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Find it @ DONGA
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7 . Academic Journal
Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.
저자
by
Eva Müller
;
Desiree Dunstheimer
;
Jürgen Klammt
;
Daniela Friebe
;
Wieland Kiess
, et al.
소스
PLoS ONE, Vol 7, Iss 5, p e38220 (2012)
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7 .
A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children
저자
by
Christoph Beger
;
Susanne Bechtold-Dalla Pozza
;
Holger Bogatsch
;
Susann Weihrauch-Blüher
;
Denise Rockstroh
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism
. 105:e1705-e1717
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7 .
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency
저자
by
Gudrun A. Rappold
;
Daniela Choukair
;
Georg F. Hoffmann
;
Cristina Martínez
;
Birgit Weiß
, et al.
소스
Genetics in Medicine
. 20:728-736
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7 .
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
저자
by
Andrew Dauber
;
Denise Rockstroh
;
Marco A. Sanchez
;
Vivian Hwa
;
I. David Schwartz
, et al.
소스
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Nature Communications
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7 .
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism
저자
by
Susanne Behrendt
;
John W.M. Creemers
;
Juraj Stanik
;
Peter Kovacs
;
Dennis Löffler
, et al.
소스
Molecular Metabolism, Vol 6, Iss 3, Pp 295-305 (2017)
Full Text (ScienceDirect)
Full Text (Clinical Key)
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