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PubPharm (51)
1
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture
enthalten in:
Nature
| 2015
von
Zheng, H.
|
Forgetta, V.
|
Hsu, Y.
| +100
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2
Brief Report : Intestinal Dysbiosis in Ankylosing Spondylitis
enthalten in:
Arthritis & rheumatology (Hoboken, N.J.)
| 2015
von
Costello, M.
|
Ciccia, F.
|
Willner, D.
| +7
CommentIn: Nat Rev Rheumatol. 2015 Jan;11(1):1. - PMID 25486979
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3
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects
enthalten in:
Human molecular genetics
| 2015
von
McInerney-Leo, A.
|
Sparrow, D.
|
Harris, J.
| +9
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4
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects
enthalten in:
Human molecular genetics
| 2015
von
McInerney-Leo, A.
|
Sparrow, D.
|
Harris, J.
| +9
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5
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas
enthalten in:
Clinical endocrinology
| 2014
von
McInerney-Leo, A.
|
Marshall, M.
|
Gardiner, B.
| +7
CommentIn: Clin Endocrinol (Oxf). 2014 Jan;80(1):23-4. - PMID 24168015
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6
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas
enthalten in:
Clinical endocrinology
| 2014
von
McInerney‐Leo, A.
|
Marshall, M.
|
Gardiner, B.
| +7
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7
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
enthalten in:
American journal of human genetics
| 2013
von
Halbritter, J.
|
Bizet, A.
|
Schmidts, M.
| +47
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8
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy
enthalten in:
American journal of human genetics
| 2013
von
Schmidts, M.
|
Vodopiutz, J.
|
Christou-Savina, S.
| +32
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9
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
enthalten in:
American journal of human genetics
| 2013
von
Halbritter, J.
|
Bizet, A.
|
Schmidts, M.
| +46
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10
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
enthalten in:
American journal of human genetics
| 2013
von
Schmidts, M.
|
Vodopiutz, J.
|
Christou-Savina, S.
| +31
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The journal of steroid biochemistry and molecul...
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Research Support, Non-U.S. Gov't
5
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2
Adult Human Tissue
2
Carrier Proteins
2
Cation Transport Proteins
2
Chondroitin Sulphate Proteoglycan
2
Cytoplasmic Dyneins
2
DYNC2H1 protein, human
2
EC 3.6.4.2
2
Embryoid Body
2
Embryonic Stem Cell
2
Embryonic Stem Cell Differentiation
2
Human Embryonic Stem Cell
2
Intracellular Signaling Peptides and Proteins
2
Klf4 Expression
2
Mature miRNAs
2
MicroRNAs
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Mutant Proteins
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Erscheinungszeitraum
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2010-2019
22
2000-2009
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