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/vufind/Search/Results?lookfor=%22Patel%2C+Mitali+P%22&type=Person&sort=year
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PubPharm (21)
1
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Fleming, A.
|
Galey, M.
|
Briggs, L.
| +20
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2
Prion protein conversion at two distinct cellular sites precedes fibrillisation
enthalten in:
Nature communications
| 2023
von
Ribes, J.
|
Patel, M.
|
Halim, H.
| +3
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3
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations
enthalten in:
Human molecular genetics
| 2023
von
Fassad, M.
|
Rumman, N.
|
Junger, K.
| +8
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4
The Palestinian primary ciliary dyskinesia population : first results of the diagnostic and genetic spectrum
enthalten in:
ERJ open research
| 2023
von
Rumman, N.
|
Fassad, M.
|
Driessens, C.
| +22
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5
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia
enthalten in:
The European respiratory journal
| 2021
von
Shoemark, A.
|
Rubbo, B.
|
Legendre, M.
| +27
CommentIn: Eur Respir J. 2021 Aug 5;58(2):. - PMID 34353866
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6
PCD Detect : enhancing ciliary features through image averaging and classification
enthalten in:
American journal of physiology. Lung cellular and molecular physiology
| 2020
von
Shoemark, A.
|
Pinto, A.
|
Patel, M.
| +4
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7
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
enthalten in:
Journal of medical genetics
| 2020
von
Fassad, M.
|
Patel, M.
|
Shoemark, A.
| +34
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8
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia
enthalten in:
Clinical genetics
| 2020
von
Fassad, M.
|
Shoman, W.
|
Morsy, H.
| +7
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9
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia
enthalten in:
Clinical Genetics
| 2020
von
Fassad, M.
|
Shoman, W.
|
Morsy, H.
| +7
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10
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
enthalten in:
Thorax
| 2019
von
Best, S.
|
Shoemark, A.
|
Rubbo, B.
| +25
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Human molecular genetics
2
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2
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2
Thorax
1
American journal of human genetics
1
American journal of physiology. Lung cellular a...
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1
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1
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1
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1
The Journal of allergy and clinical immunology
1
The journal of allergy and clinical immunology
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Thema
16
Journal Article
14
Research Support, Non-U.S. Gov't
7
primary ciliary dyskinesia
4
EC 3.6.4.2
3
Axonemal Dyneins
3
Complement C3
2
Cytoskeletal Proteins
2
Dyneins
2
Microtubule-Associated Proteins
2
Proteins
2
Research Support, N.I.H., Extramural
2
bronchiectasis
2
cilia
2
mutation
1
1-Alkyl-2-acetylglycerophosphocholine Esterase
1
80295-65-4
1
9007-36-7
1
ATPases Associated with Diverse Cellular Activi...
1
Apoptosis Regulatory Proteins
1
Blood Proteins
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Erscheinungszeitraum
9
2020-
12
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
17
Englisch
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