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PubPharm (290)
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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Medienart: E-Ressourcen
Medienart
290
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290
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E-Ressourcen
Zeitschriftentitel
27
American journal of medical genetics. Part A
12
BMC medical genetics
11
European journal of medical genetics
11
Human genetics <Berlin>
10
American journal of human genetics
10
European journal of human genetics : EJHG
9
Human mutation
8
Orphanet journal of rare diseases
7
Neurogenetics
6
BMC genetics
6
BMC medical genomics
6
Brain : a journal of neurology
6
Journal of medical genetics
5
American Journal of Medical Genetics Part C: Se...
5
Genetics in medicine : official journal of the ...
5
Human molecular genetics
5
Nature genetics
5
PloS one
4
Clinical epigenetics
4
Genes
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Thema
192
Journal Article
117
Research Support, Non-U.S. Gov't
65
Case Reports
19
Research Support, N.I.H., Extramural
17
Lebanon
13
Review
10
Extracellular Matrix Proteins
10
Membrane Proteins
8
EC 2.7.11.1
8
Exome
8
Mutation
8
Proteins
7
DNA
7
Intellectual disability
7
Pyrin
6
9007-49-2
6
Consanguinity
6
EC 3.4.24.-
6
Intracellular Signaling Peptides and Proteins
6
Published Erratum
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Erscheinungszeitraum
79
2020-
176
2010-2019
31
2000-2009
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