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Smol, T.
94  results:
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1

Fraser syndrome without cryptophthalmos: Two cases:

Boussion, S. ; Lyonnet, S. ; Van Der Zwaag, B....
European Journal of Medical Genetics.  63 (2020)  4 - p. 103839 , 2020
Link: https://doi.org/10.1016/..
 
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2

Clinical and genetic spectrum of SCN2A-associated episodic ..:

Schwarz, N. ; Bast, T. ; Gaily, E....
European Journal of Paediatric Neurology.  23 (2019)  3 - p. 438-447 , 2019
Link: https://doi.org/10.1016/..
 
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3

MED13L-related intellectual disability: involvement of miss..:

Smol, T. ; Petit, F. ; Piton, A....
neurogenetics.  19 (2018)  2 - p. 93-103 , 2018
Link: https://doi.org/10.1007/..
 
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4

Wiedemann‐Steiner syndrome as a major cause of syndromic in..:

Baer, S. ; Afenjar, A. ; Smol, T....
Clinical Genetics.  94 (2018)  1 - p. 141-152 , 2018
Link: https://doi.org/10.1111/..
 
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5

Bi-allelic truncating variants in CASP2 underlie a neurodev..:

Uctepe, E ; Vona, B ; Esen, FN...
https://openaccess.sgul.ac.uk/id/eprint/115981/1/s41431-023-01461-2.pdf.  , 2024
Link: https://openaccess.sgul...
 
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6

Missense and truncating variants in CHD5 in a dominant neur..:

Parenti, I ; Lehalle, D ; Nava, C...
10.1007/s00439-021-02283-2.  , 2023
Link: https://hdl.handle.net/2..
 
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7

SOX11 variants cause a neurodevelopmental disorder with inf..:

Al-Jawahiri, R ; Foroutan, A ; Kerkhof, J...
https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdf.  , 2022
Link: https://eprints.whiteros..
 
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8

Structural mapping of GABRB3 variants reveals genotype–phen..:

Johannesen, KM ; Iqbal, S ; Guazzi, M...
https://discovery.ucl.ac.uk/id/eprint/10143074/2/McTague_GABRB3%20mapping%20manuscript%20revision%20clean.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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9

Recurrent de novo missense variants across multiple histone..:

Tessadori, F ; Duran, K ; Knapp, K...
doi:10.1016/j.ajhg.2022.02.003.  , 2022
Link: https://doi.org/10.1016/..
 
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10

Structural mapping of GABRB3 variants reveals genotype–phen..:

Johannesen K. M ; Iqbal S ; Guazzi M...
info:eu-repo/semantics/altIdentifier/pmid/34906499.  , 2022
Link: http://hdl.handle.net/11..
 
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11

Understanding the new BRD4-related syndrome: Clinical and g..:

Jouret, G ; Heide, S ; Sorlin, A...
https://doi.org/10.1111/cge.14141.  , 2022
Link: https://doi.org/10.1111/..
 
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12

NEXMIF encephalopathy: an X-linked disorder with male and f..:

Stamberger, H ; Hammer, TB ; Gardella, E...
https://discovery.ucl.ac.uk/id/eprint/10114570/3/NEXMIF_Figure1.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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13

Missense and truncating variants in CHD5 in a dominant neur..:

Parenti, I ; Lehalle, D ; Nava, C...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-021-02283-2.  , 2021
Link: https://hal.univ-lille.f..
 
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14

Missense and truncating variants in CHD5 in a dominant neur..:

Parenti, I ; Lehalle, D ; Nava, C...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-021-02283-2.  , 2021
Link: https://hal.univ-lille.f..
 
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15

Clinical and molecular description of 19 patients with GATA..:

Vera, G ; Sorlin, A ; Delplancq, G...
https://discovery.ucl.ac.uk/id/eprint/10146514/1/1-s2.0-S1769721220305073-am.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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