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topic_facet:"neurodevelopmental disorders"
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PubPharm (4)
1
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Calame, D.
|
Wong, J.
|
Panda, P.
| +60
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2
In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population
enthalten in:
Journal of family medicine and primary care
| 2024
von
Gowda, V.
|
Srinivasan, V.
|
Srivastava, S.
| +4
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3
Snijders Blok-Campeau Syndrome : Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
enthalten in:
Genes
| 2023
von
Pascual, P.
|
Tenorio-Castano, J.
|
Mignot, C.
| +34
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4
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Werren, E.
|
Srinivasan, V.
|
Gowda, V.
| +5
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1
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Thema: neurodevelopmental disorders
Medienart
4
Aufsätze
4
E-Artikel
4
E-Ressourcen
Zeitschriftentitel
1
American journal of medical genetics. Part A
1
Genes
1
Journal of family medicine and primary care
1
medRxiv : the preprint server for health sciences
Thema
neurodevelopmental disorders
2
Journal Article
2
Research Support, Non-U.S. Gov't
1
C2orf69
1
CHD3
1
CHD3 protein, human
1
COXPD53
1
Case Reports
1
Compound heterozygous
1
DNA Helicases
1
Diamond-Blackfan anemia
1
EC 3.5.1.98
1
EC 3.6.4.-
1
EC 3.6.4.12
1
FLVCR1
1
Histones
1
Mi-2 Nucleosome Remodeling and Deacetylase Complex
1
Preprint
1
Review
1
SHQ1
Alle anzeigen ...
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Erscheinungszeitraum
2
2024
2
2023
Erscheinungsjahr(e)
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4
Englisch
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