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journalStr:"American journal of medical genetics. Part A"
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PubPharm (36)
1
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Farris, J.
|
Khanna, C.
|
Smadbeck, J.
| +14
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2
High number of candidate gene variants are identified as disease-causing in a period of 4 years
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Hills, S.
|
Li, Q.
|
Madden, J.
| +5
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3
Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Huang, S.
|
Bamba, V.
|
Bothwell, S.
| +8
UpdateOf: medRxiv. 2023 Jul 23;:. - PMID 37502850
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4
Unraveling a history of overlap : A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Crane, H.
|
Asher, S.
|
Conway, L.
| +2
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5
The importance of patient-specific resources for families dealing with prenatal rare diseases
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Shukla, D.
|
Cutshall, J.
|
van der Heijden, L.
| +2
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6
Inspiring New Science to Guide Healthcare in Turner Syndrome : Rationale, design, and methods for the InsighTS Registry
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Kanakatti Shankar, R.
|
Carl, A.
|
Law, J.
| +11
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7
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Siebold, D.
|
Denton, J.
|
Hurst, A.
| +2
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8
Clinical exome sequencing findings in 1589 patients
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Gorukmez, O.
|
Gorukmez, O.
|
Topak, A.
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9
Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Nazeha, N.
|
Koh, A.
|
Kam, S.
| +4
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10
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke : A retrospective analysis
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Kumar, R.
|
Meng, L.
|
Liu, P.
| +4
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Zeitschrift: American journal of medical genetics. Part A
Medienart
36
Aufsätze
36
E-Artikel
36
E-Ressourcen
Zeitschriftentitel
American journal of medical genetics. Part A
Thema
33
Journal Article
19
rare disease
12
rare diseases
11
Research Support, Non-U.S. Gov't
8
Case Reports
6
Review
5
Research Support, N.I.H., Extramural
3
Biomarkers
2
ASXL1
2
ASXL1 protein, human
2
Antigens, CD
2
Historical Article
2
Multicenter Study
2
Repressor Proteins
2
Turner syndrome
2
inborn genetic diseases
2
neurofibromatosis type 1
2
orphan drugs
2
registry
2
schwannomatosis
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
20
2020-
16
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
36
Englisch
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