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topic_facet:"Case Reports"
topic_facet:"Nerve Tissue Proteins"
journalStr:"Molecular genetics & genomic medicine"
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PubPharm (20)
1
A novel splice-site mutation in CHMP2B associated with frontotemporal dementia : The first report from China and literature review
enthalten in:
Molecular genetics & genomic medicine
| 2023
von
Li, C.
|
Wen, Y.
|
Zhao, M.
| +4
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2
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome
enthalten in:
Molecular genetics & genomic medicine
| 2022
von
Macke, E.
|
Morales-Rosado, J.
|
Macklin-Mantia, S.
| +4
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3
Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient
enthalten in:
Molecular genetics & genomic medicine
| 2022
von
Zhou, Y.
|
Xu, K.
|
Gu, W.
| +1
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4
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations
enthalten in:
Molecular genetics & genomic medicine
| 2022
von
Ramsey, K.
|
Belnap, N.
|
Bonfitto, A.
| +8
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5
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
enthalten in:
Molecular genetics & genomic medicine
| 2021
von
Tosca, L.
|
Drévillon, L.
|
Mouka, A.
| +12
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6
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America : A case report
enthalten in:
Molecular genetics & genomic medicine
| 2021
von
de Aguiar Coelho Silva Madeiro, B.
|
Peeters, K.
|
Santos de Lima, E.
| +5
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7
Treatment efficacy of high-dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency
enthalten in:
Molecular genetics & genomic medicine
| 2021
von
Shi, K.
|
Zhao, H.
|
Xu, S.
| +2
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8
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies : First Chinese prenatal case confirms WDR81 involvement
enthalten in:
Molecular genetics & genomic medicine
| 2021
von
Su, J.
|
Lu, W.
|
Li, M.
| +10
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9
Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants
enthalten in:
Molecular genetics & genomic medicine
| 2020
von
Zhang, X.
|
Thompson, J.
|
Zhang, D.
| +8
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10
Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion : A follow-up study of four Chinese children carriers
enthalten in:
Molecular genetics & genomic medicine
| 2020
von
Xie, H.
|
Liu, F.
|
Zhang, Y.
| +8
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Thema: Case Reports
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Thema: Nerve Tissue Proteins
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Zeitschrift: Molecular genetics & genomic medicine
Medienart
20
Aufsätze
20
E-Artikel
20
E-Ressourcen
Zeitschriftentitel
Molecular genetics & genomic medicine
Thema
Case Reports
Nerve Tissue Proteins
19
Journal Article
17
Research Support, Non-U.S. Gov't
5
Membrane Proteins
2
CNTNAP2 protein, human
2
Eye Proteins
2
Repressor Proteins
2
intellectual disability
1
16p11.2 microdeletion
1
7q35q36.1
1
9007-49-2
1
AAAS protein, human
1
ADNP
1
ADNP protein, human
1
ANKUB1
1
ATXN2
1
ATXN2 protein, human
1
ATXN3
1
ATXN3 protein, human
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Erscheinungszeitraum
13
2020-
7
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
20
Englisch
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