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PubPharm (12)
1
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
enthalten in:
Clinical genetics
| 2024
von
Engel, C.
|
Chevarin, M.
|
Piard, J.
| +10
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2
Systematic analysis and prediction of genes associated with disorders on chromosome X
enthalten in:
bioRxiv.org
| 2024
von
Leitão, E.
|
Schröder, C.
|
Parenti, I.
| +34
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3
Molecular consequences of
PQBP1
deficiency, involved in the X-linked Renpenning syndrome
enthalten in:
bioRxiv.org
| 2024
von
Courraud, J.
|
Engel, C.
|
Quartier, A.
| +14
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4
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome
enthalten in:
The British journal of dermatology
| 2024
von
Kuentz, P.
|
Engel, C.
|
Laeng, M.
| +18
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5
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Ruault, V.
|
Burger, P.
|
Gradels-Hauguel, J.
| +84
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6
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders
enthalten in:
Molecular Genetics & Genomic Medicine
| 2024
von
Ruault, V.
|
Burger, P.
|
Gradels‐Hauguel, J.
| +82
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7
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies : 3.5% of all positive cases
enthalten in:
Journal of medical genetics
| 2023
von
Racine, C.
|
Denommé-Pichon, A.
|
Engel, C.
| +104
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8
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
enthalten in:
Molecular psychiatry
| 2023
von
Courraud, J.
|
Engel, C.
|
Quartier, A.
| +17
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9
BRAT1-related disorders : phenotypic spectrum and phenotype-genotype correlations from 97 patients
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Engel, C.
|
Valence, S.
|
Delplancq, G.
| +87
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10
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis
enthalten in:
Frontiers in genetics
| 2023
von
Tran Mau-Them, F.
|
Overs, A.
|
Bruel, A.
| +38
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12
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2
bioRxiv.org
1
Clinical genetics
1
Developmental medicine and child neurology
1
European journal of human genetics : EJHG
1
Frontiers in genetics
1
Journal of medical genetics
1
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1
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The British journal of dermatology
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9
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3
Research Support, Non-U.S. Gov't
2
570
2
Biology
2
Research Support, N.I.H., Extramural
1
ADHD
1
BRAT1 protein, human
1
Case Reports
1
Cell Cycle Proteins
1
DDX3X
1
DDX3X protein, human
1
DEAD-box RNA Helicases
1
EC 2.7.1.1
1
EC 2.7.11.1
1
EC 3.6.1.-
1
EC 3.6.4.13
1
GREP
1
Genetic Variation
1
Genetics
1
MTOR
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Erscheinungszeitraum
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2024
4
2023
2
2022
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