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/vufind/Search/Results?lookfor=%22Schoof%2C+Jonathan%22&type=Person&sort=year
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PubPharm (10)
1
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency
enthalten in:
Journal of inherited metabolic disease
| 2020
von
Park, J.
|
Mealer, R.
|
Elias, A.
| +13
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2
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
enthalten in:
Journal of inherited metabolic disease
| 2020
von
Friederich, M.
|
Elias, A.
|
Kuster, A.
| +18
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3
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
enthalten in:
Journal of Inherited Metabolic Disease
| 2020
von
Friederich, M.
|
Elias, A.
|
Kuster, A.
| +18
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4
N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency
enthalten in:
Journal of Inherited Metabolic Disease
| 2020
von
Park, J.
|
Mealer, R.
|
Elias, A.
| +13
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5
Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome
enthalten in:
Journal of assisted reproduction and genetics
| 2018
von
Johnson, J.
|
Beischel, L.
|
Schwanke, C.
| +4
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6
Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome
enthalten in:
Journal of assisted reproduction and genetics
| 2018
von
Johnson, J.
|
Beischel, L.
|
Schwanke, C.
| +4
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7
Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome
enthalten in:
Journal of assisted reproduction and genetics
| 2018
von
Johnson, J.
|
Beischel, L.
|
Schwanke, C.
| +4
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8
Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome
enthalten in:
Journal of assisted reproduction and genetics
| 2018
von
Johnson, J.
|
Beischel, L.
|
Schwanke, C.
| +4
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9
Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia
enthalten in:
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
| 2008
von
Reed, R.
|
Beischel, L.
|
Schoof, J.
| +3
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10
The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians
enthalten in:
Human genetics
| 1997
von
Chen, S.
|
Schoof, J.
|
Buroker, N.
| +1
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1
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Journal of assisted reproduction and genetics
2
Journal of Inherited Metabolic Disease
2
Journal of inherited metabolic disease
1
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Thema
4
Beckwith-Wiedemann syndrome
4
IVF
4
Imprinting
4
Journal Article
4
Methylation
4
Omphalocele
2
Case Reports
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Research Support, Non-U.S. Gov't
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42Z2K6ZL8P
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Ancestral Allele
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Asian Population
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Basic Sequence
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Cation Transport Proteins
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EC 1.6.99.-
1
EC 1.8.-
1
EC 1.8.5.-
1
EC 1.9.3.1
1
Electron Transport Complex IV
1
FMR1 Gene
1
Hydrogen Sulfide
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Erscheinungszeitraum
9
2000-
1
1900-1999
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