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
John Pappas
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10Publications signalées
1Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetic Syndromes and ImprintingGenetics and Neurodevelopmental DisordersHedgehog Signaling Pathway Studies
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
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Kirsten A. Donald, Karynne Patterson, Carey‐Anne Evans, Géraldine Van Winckel et autres
0 citationsUNC Libraries
35 Individuals With HUWE1 ‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
Mindy Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz et autres
0 citationsAmerican Journal of Medical Genetics Part A
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Eric N. Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata et autres
1 citationThe American Journal of Human Genetics
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