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/vufind/Search/Results?lookfor=%22Poskanzer%2C+Sheri+A.%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Poskanzer%2C+Sheri+A.%22&type=Person&sort=year
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PubPharm (12)
1
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Alharbi, H.
|
Daniel, E.
|
Thies, J.
| +21
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2
Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association
enthalten in:
Journal of Inherited Metabolic Disease
| 2023
von
Alharbi, H.
|
Daniel, E.
|
Thies, J.
| +21
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3
Immune dysfunction in MGAT2-CDG : A clinical report and review of the literature
enthalten in:
American journal of medical genetics. Part A
| 2021
von
Poskanzer, S.
|
Schultz, M.
|
Turgeon, C.
| +14
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4
Immune dysfunction in MGAT2‐CDG : A clinical report and review of the literature
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2021
von
Poskanzer, S.
|
Schultz, M.
|
Turgeon, C.
| +14
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5
p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease
enthalten in:
JIMD reports
| 2020
von
Yi, F.
|
Poskanzer, S.
|
Myers, C.
| +6
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6
Feeding difficulty and gastrostomy tube placement in infants with Down syndrome
enthalten in:
European journal of pediatrics
| 2020
von
Poskanzer, S.
|
Hobensack, V.
|
Ciciora, S.
| +1
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7
The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis
enthalten in:
Molecular genetics & genomic medicine
| 2020
von
Poskanzer, S.
|
Thies, J.
|
Collins, C.
| +8
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8
Feeding difficulty and gastrostomy tube placement in infants with Down syndrome
enthalten in:
European journal of pediatrics
| 2020
von
Poskanzer, S.
|
Hobensack, V.
|
Ciciora, S.
| +1
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9
Feeding difficulty and gastrostomy tube placement in infants with Down syndrome
enthalten in:
European journal of pediatrics
| 2020
von
Poskanzer, S.
|
Hobensack, V.
|
Ciciora, S.
| +1
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10
Feeding difficulty and gastrostomy tube placement in infants with Down syndrome
enthalten in:
European journal of pediatrics
| 2020
von
Poskanzer, S.
|
Hobensack, V.
|
Ciciora, S.
| +1
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4
European journal of pediatrics
1
American Journal of Medical Genetics Part C: Se...
1
American journal of medical genetics. Part A
1
JIMD Reports
1
JIMD reports
1
Journal of Inherited Metabolic Disease
1
Journal of inherited metabolic disease
1
Molecular Genetics & Genomic Medicine
1
Molecular genetics & genomic medicine
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Thema
4
Aspiration
4
Congenital heart defect
4
Deglutition
4
Deglutition disorders
4
Failure to thrive
4
Hypothyroidism
4
Obstructive sleep apnea
4
Respiratory difficulties
4
Trisomy 21
4
Video swallow study
3
Case Reports
3
Journal Article
3
Research Support, N.I.H., Extramural
2
Research Support, Non-U.S. Gov't
2
Wilson disease
2
immunodeficiency
2
newborn screening
1
ATP6AP1 protein, human
1
ATP6AP1-CDG
1
ATP7B quantification
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Erscheinungszeitraum
2
2023
2
2021
8
2020
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Englisch
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