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PubPharm (234)
1
Novel IMPG2 variant causing adult macular vitelliform dystrophy : A case report
enthalten in:
European journal of ophthalmology
| 2024
von
Ribarich, N.
|
Rivolta, M.
|
Sacconi, R.
| +1
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2
The Pathogenic RET Val804Met Variant in Acromegaly : A New Clinical Phenotype?
enthalten in:
International journal of molecular sciences
| 2024
von
Chiloiro, S.
|
Capoluongo, E.
|
Costanza, F.
| +13
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3
FUS gene mutation in amyotrophic lateral sclerosis : a new case report and systematic review
enthalten in:
Amyotrophic lateral sclerosis & frontotemporal degeneration
| 2024
von
Xiao, X.
|
Li, M.
|
Ye, Z.
| +3
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4
Novel STAT1 mutation in a paediatric case of chronic mucocutaneous candidiasis complicated by primary hypothyroidism : clinical presentation, genetic analysis and prognostic implications
enthalten in:
BMJ case reports
| 2023
von
Hou, F.
|
Zhang, T.
|
Chen, F.
| +1
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5
Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy
enthalten in:
Circulation. Genomic and precision medicine
| 2023
von
Inoue, S.
|
Ko, T.
|
Nomura, S.
| +12
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6
Severe hypercalcaemia in metastatic prostate cancer with biallelic BRCA2 mutations and lytic bone lesions
enthalten in:
BMJ case reports
| 2023
von
Lazzari, L.
|
Ledet, E.
|
Hawkins, M.
| +1
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7
SOX2 pathogenic variants with normal eyes : Expanding the phenotypic spectrum
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Okoye, O.
|
Capasso, J.
|
Kopinsky, S.
| +3
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8
Expanding the mutational spectrum of ZTTK syndrome : A de novo variant with global developmental delay and malnutrition in a Chinese patient
enthalten in:
Molecular genetics & genomic medicine
| 2023
von
Tang, S.
|
You, J.
|
Liu, L.
| +11
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9
The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy
enthalten in:
Epilepsia open
| 2023
von
Whitney, R.
|
Jain, P.
|
RamachandranNair, R.
| +4
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10
A novel XPA splice-site mutation identified in a 4-year-old Filipino girl with xeroderma pigmentosum
enthalten in:
The Australasian journal of dermatology
| 2023
von
Reyes, H.
|
Lin, Y.
|
Hsu, C.
| +1
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Thema: genetics
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Thema: Case Reports
Medienart
234
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232
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Zeitschriftentitel
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BMJ case reports
12
American journal of medical genetics. Part A
8
Journal of medical genetics
7
Journal of child neurology
7
Molecular genetics & genomic medicine
7
The Annals of otology, rhinology, and laryngology
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Circulation. Genomic and precision medicine
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Amyotrophic lateral sclerosis & frontotemporal ...
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Journal of neurology, neurosurgery, and psychiatry
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Neurocase
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Ophthalmic genetics
3
European journal of ophthalmology
3
Genes
3
International journal of molecular sciences
3
Journal of Alzheimer's disease : JAD
3
Journal of the American Heart Association
3
Movement disorders : official journal of the Mo...
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Pediatric neurology
3
The Cleft palate-craniofacial journal : officia...
2
American journal of transplantation : official ...
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Case Reports
genetics
200
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Research Support, Non-U.S. Gov't
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Research Support, N.I.H., Extramural
14
Review
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Letter
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dermatology
9
pediatrics
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EC 3.6.1.-
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Nerve Tissue Proteins
8
hearing loss
7
DNA-Binding Proteins
7
EC 2.7.10.1
7
EC 2.7.11.1
7
frontotemporal dementia
7
massively parallel sequencing
5
EC 2.3.2.27
5
Membrane Proteins
5
Tumor Suppressor Proteins
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Erscheinungszeitraum
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2020-
126
2010-2019
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