Structural mapping of GABRB3 variants reveal correlations between genotype and phenotype

Katrine M. Johannesen; Sumaiya Iqbal; Milena Guazzi; Nazanin A. Mohammadi; Eduardo Perez; Dennis Lal; Elise Schaefer; Anne De Saint Martin; Marie Therese Abiwarde; Amy McTague; Roser Pons; Amelie Piton; Manju Kurian; Marie Deprez; Liesbeth de Waele; Eva Brilstra; Nienke E. Verbeek; Marjan van Kempen van Kempen; Gerhard Visser; Hilde M. H. Braakman; Martin Haeusler; Miriam Elbracht; David Sternman; Martin Haeusler; Miriam Elbracht; David Sternman; Ulvi Vaher; Thomas Smol; Joanna Kennedy; Karl Martin Klein; Billie Au; Kimberly Smyth; Thomas Morgan; Malin Dewenter; Argirios Dinopoulos; Damien Lederer; Vivian Liao; Philip K. Ahring; Rikke S. Moller; Elena Gardella

Structural mapping of GABRB3 variants reveal correlations between genotype and phenotype

Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Perez, Dennis Lal, Elise Schaefer, Anne De Saint Martin, Marie Therese Abiwarde, Amy McTague, Roser Pons, Amelie Piton, Manju Kurian, Marie Deprez, Liesbeth de Waele, Eva Brilstra, Nienke E. Verbeek, Marjan van Kempen van Kempen, Gerhard Visser, Hilde M. H. BraakmanMartin Haeusler, Miriam Elbracht, David Sternman, Martin Haeusler, Miriam Elbracht, David Sternman, Ulvi Vaher, Thomas Smol, Joanna Kennedy, Karl Martin Klein, Billie Au, Kimberly Smyth, Thomas Morgan, Malin Dewenter, Argirios Dinopoulos, Damien Lederer, Vivian Liao, Philip K. Ahring, Rikke S. Moller, Elena Gardella

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review

Originalsprog	Engelsk
Tidsskrift	European Journal of Human Genetics
Vol/bind	30
Udgave nummer	Suppl. 1
Sider (fra-til)	278-279
ISSN	1018-4813
Status	Udgivet - 1. apr. 2022
Begivenhed	54th European Society of Human Genetics (ESHG) Conference - Vienna, Østrig Varighed: 11. jun. 2022 → 14. jun. 2022

Konference

Konference	54th European Society of Human Genetics (ESHG) Conference
Land/Område	Østrig
By	Vienna
Periode	11/06/2022 → 14/06/2022

Dokumenter og links

https://www.nature.com/articles/s41431-021-01026-1

SDU link

Tjek adgangen til materialet i Syddansk Universitetsbiblioteks søgemaskine

Citationsformater

Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Perez, E., Lal, D., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., McTague, A., Pons, R., Piton, A., Kurian, M., Deprez, M., de Waele, L., Brilstra, E., Verbeek, N. E., van Kempen, M. V. K., Visser, G., ... Gardella, E. (2022). Structural mapping of GABRB3 variants reveal correlations between genotype and phenotype. European Journal of Human Genetics, 30(Suppl. 1), 278-279. https://www.nature.com/articles/s41431-021-01026-1

@article{22235b9254744a0a8e791989a2eb14c4,

title = "Structural mapping of GABRB3 variants reveal correlations between genotype and phenotype",

author = "Johannesen, \{Katrine M.\} and Sumaiya Iqbal and Milena Guazzi and Mohammadi, \{Nazanin A.\} and Eduardo Perez and Dennis Lal and Elise Schaefer and \{De Saint Martin\}, Anne and Abiwarde, \{Marie Therese\} and Amy McTague and Roser Pons and Amelie Piton and Manju Kurian and Marie Deprez and \{de Waele\}, Liesbeth and Eva Brilstra and Verbeek, \{Nienke E.\} and \{van Kempen\}, \{Marjan van Kempen\} and Gerhard Visser and Braakman, \{Hilde M. H.\} and Martin Haeusler and Miriam Elbracht and David Sternman and Martin Haeusler and Miriam Elbracht and David Sternman and Ulvi Vaher and Thomas Smol and Joanna Kennedy and Klein, \{Karl Martin\} and Billie Au and Kimberly Smyth and Thomas Morgan and Malin Dewenter and Argirios Dinopoulos and Damien Lederer and Vivian Liao and Ahring, \{Philip K.\} and Moller, \{Rikke S.\} and Elena Gardella",

year = "2022",

month = apr,

day = "1",

language = "English",

volume = "30",

pages = "278--279",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer",

number = "Suppl. 1",

note = "54th European Society of Human Genetics (ESHG) Conference ; Conference date: 11-06-2022 Through 14-06-2022",

}

Johannesen, KM, Iqbal, S, Guazzi, M, Mohammadi, NA, Perez, E, Lal, D, Schaefer, E, De Saint Martin, A, Abiwarde, MT, McTague, A, Pons, R, Piton, A, Kurian, M, Deprez, M, de Waele, L, Brilstra, E, Verbeek, NE, van Kempen, MVK, Visser, G, Braakman, HMH, Haeusler, M, Elbracht, M, Sternman, D, Haeusler, M, Elbracht, M, Sternman, D, Vaher, U, Smol, T, Kennedy, J, Klein, KM, Au, B, Smyth, K, Morgan, T, Dewenter, M, Dinopoulos, A, Lederer, D, Liao, V, Ahring, PK, Moller, RS & Gardella, E 2022, 'Structural mapping of GABRB3 variants reveal correlations between genotype and phenotype', European Journal of Human Genetics, bind 30, nr. Suppl. 1, s. 278-279. <https://www.nature.com/articles/s41431-021-01026-1>

TY - ABST

T1 - Structural mapping of GABRB3 variants reveal correlations between genotype and phenotype

AU - Johannesen, Katrine M.

AU - Iqbal, Sumaiya

AU - Guazzi, Milena

AU - Mohammadi, Nazanin A.

AU - Perez, Eduardo

AU - Lal, Dennis

AU - Schaefer, Elise

AU - De Saint Martin, Anne

AU - Abiwarde, Marie Therese

AU - McTague, Amy

AU - Pons, Roser

AU - Piton, Amelie

AU - Kurian, Manju

AU - Deprez, Marie

AU - de Waele, Liesbeth

AU - Brilstra, Eva

AU - Verbeek, Nienke E.

AU - van Kempen, Marjan van Kempen

AU - Visser, Gerhard

AU - Braakman, Hilde M. H.

AU - Haeusler, Martin

AU - Elbracht, Miriam

AU - Sternman, David

AU - Haeusler, Martin

AU - Elbracht, Miriam

AU - Sternman, David

AU - Vaher, Ulvi

AU - Smol, Thomas

AU - Kennedy, Joanna

AU - Klein, Karl Martin

AU - Au, Billie

AU - Smyth, Kimberly

AU - Morgan, Thomas

AU - Dewenter, Malin

AU - Dinopoulos, Argirios

AU - Lederer, Damien

AU - Liao, Vivian

AU - Ahring, Philip K.

AU - Moller, Rikke S.

AU - Gardella, Elena

PY - 2022/4/1

Y1 - 2022/4/1

M3 - Conference abstract in journal

SN - 1018-4813

VL - 30

SP - 278

EP - 279

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - Suppl. 1

T2 - 54th European Society of Human Genetics (ESHG) Conference

Y2 - 11 June 2022 through 14 June 2022

ER -