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/vufind/Search/Results?lookfor=%22Shamseldin%2C+Hanan+E%22&type=Person&sort=year
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PubPharm (135)
1
Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder
enthalten in:
Clinical genetics
| 2024
von
You, M.
|
Shamseldin, H.
|
Fogle, H.
| +9
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2
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
enthalten in:
Nature communications
| 2024
von
Chelban, V.
|
Aksnes, H.
|
Maroofian, R.
| +59
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3
Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution
enthalten in:
Human genetics
| 2024
von
Alshammari, M.
|
Shamseldin, H.
|
Essbaiheen, F.
| +4
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4
Beyond the exome : utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
enthalten in:
Genome medicine
| 2023
von
AlAbdi, L.
|
Shamseldin, H.
|
Khouj, E.
| +36
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5
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
enthalten in:
Genome medicine
| 2023
von
AlAbdi, L.
|
Shamseldin, H.
|
Khouj, E.
| +36
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6
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission
enthalten in:
Brain : a journal of neurology
| 2023
von
Fasham, J.
|
Huebner, A.
|
Liebmann, L.
| +27
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7
A founder DBR1 variant causes a lethal form of congenital ichthyosis
enthalten in:
Human genetics
| 2023
von
Shamseldin, H.
|
Sadagopan, M.
|
Martini, J.
| +13
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8
A founder DBR1 variant causes a lethal form of congenital ichthyosis
enthalten in:
Human genetics
| 2023
von
Shamseldin, H.
|
Sadagopan, M.
|
Martini, J.
| +13
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9
A founder DBR1 variant causes a lethal form of congenital ichthyosis
enthalten in:
Human genetics
| 2023
von
Shamseldin, H.
|
Sadagopan, M.
|
Martini, J.
| +13
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10
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
enthalten in:
Nature communications
| 2023
von
AlAbdi, L.
|
Maddirevula, S.
|
Shamseldin, H.
| +66
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135
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Zeitschriftentitel
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Human genetics
24
Human genetics <Berlin>
16
American journal of human genetics
9
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8
Genetics in medicine : official journal of the ...
8
Journal of medical genetics
5
American journal of medical genetics. Part A
5
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The Journal of allergy and clinical immunology
1
American Journal of Medical Genetics Part C: Se...
1
Cell reports
1
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Thema
60
Journal Article
36
Research Support, Non-U.S. Gov't
19
Case Reports
11
Research Support, N.I.H., Extramural
9
Membrane Proteins
6
Exome Sequencing
6
Mendelian
4
EC 2.7.11.1
4
Morpholinos
4
Proteins
4
Transcription Factors
3
Abdominal Circumference
3
Attention deficit hyperactivity disorder (ADHD)
3
Autosomal Recessive Mutation
3
BMPR1A
3
Carrier Proteins
3
Citrullinemia
3
Complex Congenital Heart Disease
3
DNA-Binding Proteins
3
Diaphragmatic Hernia
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Erscheinungszeitraum
37
2020-
98
2010-2019
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120
Englisch
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