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topic_facet:"Case Reports"
journalStr:"Molecular genetics & genomic medicine"
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Search /vufind/Search2/Results?filter%5B%5D=topic_facet%3A%22Case+Reports%22&filter%5B%5D=journalStr%3A%22Molecular+genetics+%26+genomic+medicine%22&lookfor=%22Humans%22&type=Subject
PubPharm (496)
1
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Chen, Y.
|
Yang, R.
|
Chen, X.
| +7
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2
Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate : A case report and review of the literature
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Zhang, Y.
|
Zhao, Y.
|
Dai, L.
| +2
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3
Reclassification of a spindle cell sarcoma after identification of a TFG-ROS1 fusion : A case demonstrating the clinical benefit of next-generation sequencing in sarcoma
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Lim, J.
|
Chen, E.
|
Schaub, S.
| +1
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4
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Zhuang, D.
|
Sun, S.
|
Hu, Z.
| +5
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5
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Song, Y.
|
Elwafa, R.
|
Omar, O.
| +2
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6
Okur-Chung neurodevelopmental syndrome : Implications for phenotype and genotype expansion
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Nan, H.
|
Chu, M.
|
Zhang, J.
| +3
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7
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Li, Y.
|
Dai, L.
|
Xu, H.
| +4
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8
Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
German, R.
|
Vuocolo, B.
|
Vossaert, L.
| +6
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9
A novel gain-of-function STAT3 variant in infantile-onset diabetes associated with multiorgan autoimmunity
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Zhou, Q.
|
Chen, D.
|
Yu, J.
| +5
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10
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Yang, Q.
|
Ou, S.
|
Zhou, X.
| +6
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Thema: Case Reports
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Zeitschrift: Molecular genetics & genomic medicine
Medienart
496
Aufsätze
496
E-Artikel
496
E-Ressourcen
Zeitschriftentitel
Molecular genetics & genomic medicine
Thema
Case Reports
487
Journal Article
337
Research Support, Non-U.S. Gov't
62
Review
35
Research Support, N.I.H., Extramural
34
whole exome sequencing
31
Membrane Proteins
31
whole-exome sequencing
22
Codon, Nonsense
22
Transcription Factors
21
exome sequencing
20
Nerve Tissue Proteins
20
intellectual disability
19
DNA-Binding Proteins
17
Nuclear Proteins
17
Repressor Proteins
16
RNA Splice Sites
15
mutation
12
EC 3.6.1.-
12
developmental delay
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Erscheinungszeitraum
367
2020-
129
2010-2019
Erscheinungsjahr(e)
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Sprache
496
Englisch
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