Bernard, Genevieve
1016  results:
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1

Etiological involvement of KCND1 variants in an X-linked ne..:

Kalm, Tassja ; Schob, Claudia ; Völler, Hanna...
https://pure.eur.nl/en/publications/624c57f2-1963-4a12-b223-8fabe939ca92.  , 2024
 
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3

Newborn screening in metachromatic leukodystrophy – Europea..:

Laugwitz, Lucia ; Schoenmakers, Daphne H ; Adang, Laura A...
https://research.vumc.nl/en/publications/4d19e2f6-3ba1-426b-8148-a1a0dfab5215.  , 2024
 
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5

The Spectrum of MORC2-Related Disorders:A Potential Link to..:

Stafki, Seth A ; Turner, Johnnie ; Littel, Hannah R...
Stafki , S A , Turner , J , Littel , H R , Bruels , C C , Truong , D , Knirsch , U , Stettner , G M , Graf , U , Berger , W , Kinali , M , Jungbluth , H , Pacak , C A , Hughes , J , Mirchi , A , Derksen , A , Vincent-Delorme , C , Theil , A F , Bernard , G , Ellis , D , Fassihi , H , Lehmann , A R , Laugel , V , Mohammed , S & Kang , P B 2023 , ' The Spectrum of MORC2-Related Disorders : A Potential Link to Cockayne Syndrome ' , Pediatric neurology , vol. 141 , pp. 79-86 . https://doi.org/10.1016/j.pediatrneurol.2023.01.011.  , 2023
 
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6

Core protocol development for phase 2/3 clinical trials in ..:

Schoenmakers, Daphne H ; Leferink, Prisca S ; Vanderver, Adeline...
https://research.vu.nl/en/publications/f13b7437-7ae0-4c82-8caa-3b9c0ddb9f5d.  , 2023
 
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7

Gross Motor Function in Pediatric Onset TUBB4A-Related Leuk..:

Gavazzi, Francesco ; Patel, Virali ; Charsar, Brittany...
https://discovery.ucl.ac.uk/id/eprint/10177938/2/Magrinelli_Gross%20Motor%20Function%20in%20Pediatric%20OnsetTUBB4A-Related%20Leukodystrophy_AAM.pdf.  , 2023
 
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8

Core protocol development for phase 2/3 clinical trials in ..:

Schoenmakers, Daphne H ; Leferink, Prisca S ; Vanderver, Adeline...
https://research.vumc.nl/en/publications/dc867e7d-d369-4116-9b4a-593e8765c6df.  , 2023
 
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9

Craniofacial features of POLR3-related leukodystrophy cause..:

Mirchi, Amytice ; Guay, Simon Pierre ; Tran, Luan T...
https://research.vumc.nl/en/publications/8bb28185-c935-4af2-8a5b-cd12499149ee.  , 2023
 
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10

The Spectrum of MORC2-Related Disorders:A Potential Link to..:

Stafki, Seth A ; Turner, Johnnie ; Littel, Hannah R...
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69.  , 2023
 
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11

The Spectrum of MORC2-Related Disorders: A Potential Link t..:

Stafki, Seth A ; Turner, Johnnie ; Littel, Hannah R...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.pediatrneurol.2023.01.011.  , 2023
 
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12

Core protocol development for phase 2/3 clinical trials in ..:

Schoenmakers, Daphne H ; Leferink, Prisca S ; Vanderver, Adeline...
https://research.vumc.nl/en/publications/dc867e7d-d369-4116-9b4a-593e8765c6df.  , 2023
 
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13

Craniofacial features of POLR3-related leukodystrophy cause..:

Mirchi, Amytice ; Guay, Simon Pierre ; Tran, Luan T...
https://research.vumc.nl/en/publications/8bb28185-c935-4af2-8a5b-cd12499149ee.  , 2023
 
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14

Core protocol development for phase 2/3 clinical trials in ..:

Schoenmakers, Daphne H ; Leferink, Prisca S ; Vanderver, Adeline...
https://research.vu.nl/en/publications/f13b7437-7ae0-4c82-8caa-3b9c0ddb9f5d.  , 2023
 
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15

The Spectrum of MORC2-Related Disorders:A Potential Link to..:

Stafki, Seth A ; Turner, Johnnie ; Littel, Hannah R...
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69.  , 2023
 
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