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PubPharm (487)
1
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
enthalten in:
Molecular genetics and metabolism
| 2024
von
Hammann, N.
|
Lenz, D.
|
Baric, I.
| +32
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2
Altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation are key pathomechanisms in VRK1-related motor neuropathies and motor neuron diseases
enthalten in:
bioRxiv.org
| 2024
von
Hamzé, Z.
|
Humbert, C.
|
Rihan, K.
| +9
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3
A Case of Leber Hereditary Optic Neuropathy Triggered by Pfizer-BioNTech Vaccine : Evidence of Pathogenesis of a Novel Mutation
enthalten in:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
| 2024
von
Rizk, M.
|
Dunya, I.
|
Seif, R.
| +2
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4
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects
enthalten in:
Clinical genetics
| 2024
von
Mehawej, C.
|
Ibrahim, M.
|
Khalife, L.
| +6
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5
Epigenetic Age Acceleration in Surviving versus Deceased COVID-19 Patients with Acute Respiratory Distress Syndrome following Hospitalization
enthalten in:
bioRxiv.org
| 2023
von
Bejaoui, Y.
|
Amanullah, F.
|
Saad, M.
| +6
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6
Positive impact of sulfamethoxazole-trimethoprim prophylaxis on prevention of severe infections in a patient with glycogen storage disease type Ib
enthalten in:
Journal of Rare Diseases
| 2023
von
Khalil, M.
|
Fata, A.
|
Diab, E.
| +3
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7
Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization
enthalten in:
Clinical epigenetics
| 2023
von
Bejaoui, Y.
|
Humaira Amanullah, F.
|
Saad, M.
| +6
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8
Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization
enthalten in:
Clinical epigenetics
| 2023
von
Bejaoui, Y.
|
Humaira Amanullah, F.
|
Saad, M.
| +6
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9
Non-syndromic hypotrichosis : A report of two novel variants in the LSS gene
enthalten in:
Pediatric dermatology
| 2023
von
El Hakim, J.
|
Mehawej, C.
|
Chouery, E.
| +3
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10
CHAMP1-Related Disorder : Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature
enthalten in:
Genes
| 2023
von
Abi Raad, S.
|
Yazbeck Karam, V.
|
Chouery, E.
| +2
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487
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Zeitschriftentitel
43
American journal of medical genetics. Part A
32
American journal of human genetics
26
European journal of medical genetics
21
American journal of medical genetics / C
16
American journal of medical genetics
14
European journal of human genetics : EJHG
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Human mutation
12
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Human genetics <Berlin>
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Nature genetics
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Journal of medical genetics
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Orphanet journal of rare diseases
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6
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6
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6
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6
Brain : a journal of neurology
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91
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20
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17
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13
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13
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12
Extracellular Matrix Proteins
12
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10
DNA
10
Pyrin
9
9007-49-2
8
Codon, Nonsense
8
Cytoskeletal Proteins
8
EC 2.7.11.1
8
Genetic Markers
8
MEFV protein, human
8
Transcription Factors
7
Comparative Study
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2020-
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2010-2019
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