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PubPharm (81)
1
ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
enthalten in:
The Egyptian journal of medical human genetics
| 2024
von
El Khatib, D.
|
Hojeij, M.
|
Sabbagh, S.
| +5
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2
Epigenetic Age Acceleration in Surviving versus Deceased COVID-19 Patients with Acute Respiratory Distress Syndrome following Hospitalization
enthalten in:
bioRxiv.org
| 2024
von
Bejaoui, Y.
|
Amanullah, F.
|
Saad, M.
| +6
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3
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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4
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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5
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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6
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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7
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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8
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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9
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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10
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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Erscheinungsjahr: 2020-2029
Medienart
81
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79
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79
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Zeitschriftentitel
4
American Journal of Medical Genetics Part C: Se...
4
American journal of medical genetics. Part A
4
Genes
4
Journal of clinical immunology
4
bioRxiv.org
3
Clinical genetics
3
Genetics in medicine : official journal of the ...
3
Neurogenetics
2
Case reports in medicine
2
Clinical Genetics
2
Clinical epigenetics
2
Human genetics
2
Human genetics <Berlin>
2
Journal of medical genetics
2
Journal of neuro-ophthalmology : the official j...
2
Molecular syndromology
2
Nature genetics
1
Advances in skin & wound care
1
Aging Cell
1
Aging cell
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Thema
45
Journal Article
21
Case Reports
20
Research Support, Non-U.S. Gov't
7
Review
5
EC 2.7.11.1
4
Burden of disease
4
Consanguinity
4
Epidemiology
4
Inborn errors of immunity
4
Molecular diagnosis
4
Primary immunodeficiency
4
Whole exome sequencing
3
Clinical heterogeneity
3
Hereditary spastic paraplegia
3
Homeodomain Proteins
3
Lebanon
3
RNA, Messenger
3
Research Support, N.I.H., Extramural
2
570
2
9007-49-2
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2020-
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2024
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2020
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