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/vufind/Search/Results?lookfor=%22Baker%2C+Elizabeth+K%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Baker%2C+Elizabeth+K%22&type=Person&sort=year
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PubPharm (31)
1
Phenotypes and genotypes in a cohort of children with single-ventricle CHD
enthalten in:
Cardiology in the young
| 2024
von
Baker, E.
|
Shikany, A.
|
Winlaw, D.
| +1
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2
Apnoeic oxygenation during neonatal intubation
enthalten in:
Seminars in fetal & neonatal medicine
| 2023
von
Baker, E.
|
Davis, P.
|
Hodgson, K.
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3
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder : a case report and review of the literature
enthalten in:
Molecular genetics and genomics : MGG
| 2023
von
Baker, E.
|
Han, J.
|
Langley, W.
| +4
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4
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Baker, E.
|
Al Gharaibeh, F.
|
Bove, K.
| +4
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5
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature
enthalten in:
Molecular genetics and genomics
| 2023
von
Baker, E.
|
Han, J.
|
Langley, W.
| +4
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6
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature
enthalten in:
Molecular genetics and genomics
| 2023
von
Baker, E.
|
Han, J.
|
Langley, W.
| +4
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7
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature
enthalten in:
Molecular genetics and genomics
| 2023
von
Baker, E.
|
Han, J.
|
Langley, W.
| +4
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8
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Baker, E.
|
Brewer, C.
|
Ferreira, L.
| +7
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9
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Baker, E.
|
Brewer, C.
|
Ferreira, L.
| +7
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10
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Baker, E.
|
Al Gharaibeh, F.
|
Bove, K.
| +4
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American Journal of Medical Genetics Part C: Se...
3
American journal of medical genetics. Part A
3
Applied psychophysiology and biofeedback
3
Molecular genetics and genomics
2
Molecular cytogenetics
2
Molecular microbiology
2
Proceedings of the National Academy of Sciences...
2
Psychiatry research
2
Stem cells translational medicine
1
Acta paediatrica (Oslo, Norway : 1992)
1
Archives of disease in childhood. Fetal and neo...
1
Cardiology in the young
1
Cyberpsychology & behavior : the impact of the ...
1
Cytotherapy
1
Frontiers in genetics
1
Molecular genetics and genomics : MGG
1
Seminars in fetal & neonatal medicine
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Thema
14
Journal Article
5
Review
4
Missense
4
Movement disorder
4
RNA sequencing
4
Variant of unknown significance
3
Research Support, Non-U.S. Gov't
2
Case Reports
2
Mitotic rescue
2
Research Support, N.I.H., Extramural
2
SNP microarray
2
Unbalanced translocation
1
14-3-3 Proteins
1
17p13.3 deletion syndrome
1
452VLY9402
1
63231-63-0
1
Albumins
1
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1
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1
Antipsychotic Agents
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Erscheinungszeitraum
28
2000-
3
1900-1999
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Englisch
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