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PubPharm (8)
1
Feeding tube use and complications in Prader-Willi syndrome : Data from the Global Prader-Willi Syndrome Registry
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Roy, S.
|
Rafferty, D.
|
Trejo, A.
| +7
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2
Five siblings expand the spectrum of GPC6-related skeletal dysplasia
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Crenshaw, M.
|
Meyers, M.
|
Brown, K.
| +7
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3
Quantitative measures of motor development in Angelman syndrome
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Duis, J.
|
Skinner, A.
|
Carson, R.
| +6
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4
Communication practices of parents and unaffected sibling needs in families impacted by a diagnosis of Angelman syndrome
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Turnwald, A.
|
Thompson, T.
|
Nori, K.
| +1
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5
Neuropsychiatric features of Prader-Willi syndrome
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Shelkowitz, E.
|
Gantz, M.
|
Ridenour, T.
| +4
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6
Limitations of exome sequencing in detecting rare and undiagnosed diseases
enthalten in:
American journal of medical genetics. Part A
| 2020
von
Burdick, K.
|
Cogan, J.
|
Rives, L.
| +15
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7
Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A
enthalten in:
American journal of medical genetics. Part A
| 2018
von
Perez, K.
|
Lee, E.
|
Kahanda, S.
| +4
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8
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
enthalten in:
American journal of medical genetics. Part A
| 2016
von
Pipitone, A.
|
Raval, D.
|
Duis, J.
| +5
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1
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Zeitschrift: American journal of medical genetics. Part A
Medienart
8
Aufsätze
8
E-Artikel
8
E-Ressourcen
Zeitschriftentitel
American journal of medical genetics. Part A
Thema
8
Journal Article
3
Research Support, N.I.H., Extramural
2
Angelman syndrome
2
Prader-Willi syndrome
1
3-hydroxy-3-methylglutaric CoA lyase deficiency
1
Acetyl-CoA C-Acetyltransferase
1
Albright hereditary osteodystrophy
1
Biomarkers
1
Case Reports
1
EC 2.3.1.9
1
GPC6
1
GPC6 protein, human
1
Global Prader-Willi Syndrome Registry
1
Glypicans
1
HMG-CoA lyase deficiency
1
Hedgehog Proteins
1
Research Support, Non-U.S. Gov't
1
Undiagnosed Diseases Network
1
anxiety
1
cognition
Alle anzeigen ...
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Erscheinungszeitraum
6
2020-
2
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
8
Englisch
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