The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
Debora Tibbe, Christina Kiel, Olena Ielesicheva, Kerstin Robles de Maruri et autres
0 citationsGenome Medicine
Fanny Laffargue
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58Publications signalées
1575Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesGenetic Syndromes and ImprintingGenetics and Neurodevelopmental DisordersConnective tissue disorders research
Publications récentes
Additional file 3 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
Debora Tibbe, Christina Kiel, Olena Ielesicheva, Kerstin Robles de Maruri et autres
0 citationsFigshare
Additional file 2 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
Debora Tibbe, Christina Kiel, Olena Ielesicheva, Kerstin Robles de Maruri et autres
0 citationsFigshare
Additional file 3 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
Debora Tibbe, Christina Kiel, Olena Ielesicheva, Kerstin Robles de Maruri et autres
0 citationsFigshare
Additional file 1 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
Debora Tibbe, Christina Kiel, Olena Ielesicheva, Kerstin Robles de Maruri et autres
0 citationsFigshare
Additional file 1 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
Debora Tibbe, Christina Kiel, Olena Ielesicheva, Kerstin Robles de Maruri et autres
0 citationsFigshare
Additional file 2 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
Debora Tibbe, Christina Kiel, Olena Ielesicheva, Kerstin Robles de Maruri et autres
0 citationsFigshare
Functional and Molecular Characterization of Novel GDF2 ( BMP9 ) and BMP10 Variants From the French PAH and HHT Cohorts
Agnès Desroches‐Castan, Lea Beurier-Soulat, Maud Tusseau, Florence Coulet et autres
0 citationsCirculation Genomic and Precision Medicine
DDX3X syndrome: a multicenter genotype-phenotype study
Emanuele G. Coci, Christoph G. W. Gertzen, Pilar Chacon Millan, Maria Daniela D ́Agostino et autres
0 citationsResearch Square
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin et autres
6 citationsJournal of Clinical Investigation
A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot
Camille Bergès, Fanny Laffargue, Claire Dauphin, Alex V. Postma et autres
1 citationEuropean Journal of Human Genetics
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, Benjamin Cogné, Elsa Leitão, François Lecoquierre et autres
49 citationsNature Genetics
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