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PubPharm (72)
1
Genome sequencing as a generic diagnostic strategy for rare disease
enthalten in:
Genome medicine
| 2024
von
Schobers, G.
|
Derks, R.
|
den Ouden, A.
| +27
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2
Genome sequencing as a generic diagnostic strategy for rare disease
enthalten in:
Genome medicine
| 2024
von
Schobers, G.
|
Derks, R.
|
den Ouden, A.
| +27
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3
Genome sequencing as a generic diagnostic strategy for rare disease
enthalten in:
bioRxiv.org
| 2023
von
Schobers, G.
|
Derks, R.
|
den Ouden, A.
| +27
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4
Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants : A Case Series of 17 Families
enthalten in:
Kidney medicine
| 2023
von
Groen In 't Woud, S.
|
Rood, I.
|
Steenbergen, E.
| +8
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5
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
enthalten in:
NPJ genomic medicine
| 2022
von
Haer-Wigman, L.
|
den Ouden, A.
|
van Genderen, M.
| +13
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6
Later Response to Corticosteroids in Adults With Primary Focal Segmental Glomerular Sclerosis Is Associated With Favorable Outcomes
enthalten in:
Kidney international reports
| 2022
von
Rood, I.
|
Bavinck, A.
|
Lipska-Ziętkiewicz, B.
| +4
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7
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
enthalten in:
European journal of human genetics : EJHG
| 2021
von
Doornbos, C.
|
van Beek, R.
|
Bongers, E.
| +5
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8
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness
enthalten in:
Journal of the American Society of Nephrology : JASN
| 2021
von
Schlingmann, K.
|
Renigunta, A.
|
Hoorn, E.
| +28
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9
Polycystic liver disease genes : Practical considerations for genetic testing
enthalten in:
European journal of medical genetics
| 2021
von
Boerrigter, M.
|
Bongers, E.
|
Lugtenberg, D.
| +2
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10
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
enthalten in:
HGG advances
| 2021
von
Van De Weghe, J.
|
Giordano, J.
|
Mathijssen, I.
| +18
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American journal of human genetics
8
Human mutation
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Methyl-CpG-Binding Protein 2
4
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3
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3
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3
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3
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IFT140
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Joubert Syndrome
3
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Lubricin
3
MECP2 protein, human
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MZSDS
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Mainzer–Saldino syndrome
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