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topic_facet:"Case Reports"
topic_facet:"Research Support, Non-U.S. Gov't"
journalStr:"European journal of human genetics : EJHG"
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PubPharm (283)
1
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Bjørnstad, P.
|
Aaløkken, R.
|
Åsheim, J.
| +12
ErratumIn: Eur J Hum Genet. 2024 Jan 4;:. - PMID 38172175
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2
Expanding the phenotypic spectrum of LIG4 pathogenic variations : neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Nicolle, R.
|
Boutaud, L.
|
Loeuillet, L.
| +10
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3
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Ronchi, D.
|
Garbellini, M.
|
Magri, F.
| +23
CommentIn: Eur J Hum Genet. 2023 Oct 4;:. - PMID 37789086
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4
2p25.3 microduplications involving MYT1L : further phenotypic characterization through an assessment of 16 new cases and a literature review
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Bouassida, M.
|
Egloff, M.
|
Levy, J.
| +12
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5
Loss of function of ADNP by an intragenic inversion
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Georget, M.
|
Lejeune, E.
|
Buratti, J.
| +5
CommentIn: Eur J Hum Genet. 2023 Apr 18;:. - PMID 37072552
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6
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Fortugno, P.
|
Monetta, R.
|
Cinquina, V.
| +15
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7
A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss
enthalten in:
European journal of human genetics : EJHG
| 2022
von
Robles-Bolivar, P.
|
Bächinger, D.
|
Parra-Perez, A.
| +5
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8
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant
enthalten in:
European journal of human genetics : EJHG
| 2022
von
Yıldız Bölükbaşı, E.
|
Karolak, J.
|
Szafranski, P.
| +9
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9
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome
enthalten in:
European journal of human genetics : EJHG
| 2022
von
Lindsey-Temple, S.
|
Edwards, M.
|
Rickassel, V.
| +2
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10
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1
enthalten in:
European journal of human genetics : EJHG
| 2022
von
Chopra, M.
|
Caswell, R.
|
Barcia, G.
| +12
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Thema: Case Reports
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Zeitschrift: European journal of human genetics : EJHG
Medienart
283
Aufsätze
234
E-Artikel
234
E-Ressourcen
49
Gedruckte Aufsätze
Zeitschriftentitel
European journal of human genetics : EJHG
Thema
Case Reports
283
Journal Article
Research Support, Non-U.S. Gov't
28
Transcription Factors
26
Research Support, N.I.H., Extramural
23
Nerve Tissue Proteins
21
DNA-Binding Proteins
20
Nuclear Proteins
14
Codon, Nonsense
14
Membrane Proteins
14
Proteins
10
Forkhead Transcription Factors
10
Mitochondrial Proteins
9
Review
8
Cell Cycle Proteins
8
EC 3.6.1.-
8
RNA, Messenger
8
Tumor Suppressor Proteins
7
Adaptor Proteins, Signal Transducing
7
EC 2.7.11.30
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Erscheinungszeitraum
257
2000-
8
1900-1999
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Sprache
283
Englisch
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