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/vufind/Search/Results?lookfor=%22Lewis%2C+Richard+A%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Lewis%2C+Richard+A%22&type=Person&sort=year
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PubPharm (490)
1
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
enthalten in:
American journal of human genetics
| 2024
von
Paul, M.
|
Michener, S.
|
Pan, H.
| +60
ErratumFor: Am J Hum Genet. 2024 Jan 4;111(1):96-118. - PMID 38181735
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2
Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
German, R.
|
Vuocolo, B.
|
Vossaert, L.
| +6
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3
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
enthalten in:
American journal of human genetics
| 2024
von
Paul, M.
|
Michener, S.
|
Pan, H.
| +157
ErratumIn: Am J Hum Genet. 2024 Mar 19;:. - PMID 38508193
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4
Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss
enthalten in:
Molecular Genetics & Genomic Medicine
| 2024
von
German, R.
|
Vuocolo, B.
|
Vossaert, L.
| +5
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5
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome
enthalten in:
Journal of the peripheral nervous system : JPNS
| 2023
von
van Doorn, P.
|
Van den Bergh, P.
|
Hadden, R.
| +18
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6
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome
enthalten in:
European journal of neurology
| 2023
von
van Doorn, P.
|
Van den Bergh, P.
|
Hadden, R.
| +18
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7
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
enthalten in:
Brain : a journal of neurology
| 2023
von
Record, C.
|
Skorupinska, M.
|
Laura, M.
| +71
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8
Measuring Metal-Metal Communication in a Series of Ketimide-Bridged [Fe2]6+ Complexes
enthalten in:
Inorganic chemistry
| 2023
von
Hertler, P.
|
Lewis, R.
|
Wu, G.
| +1
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9
The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits
enthalten in:
bioRxiv.org
| 2023
von
Coban-Akdemir, Z.
|
Song, X.
|
Ceballos, F.
| +20
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10
An innovative phase 2 proof-of-concept trial design to evaluate SAR445088, a monoclonal antibody targeting complement C1s in chronic inflammatory demyelinating polyneuropathy
enthalten in:
Journal of the peripheral nervous system : JPNS
| 2023
von
Querol, L.
|
Lewis, R.
|
Hartung, H.
| +6
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