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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage |
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Titel: |
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage |
Auteur: |
Lecca, Mauro Pehlivan, Davut Suñer, Damià Heine Weiss, Karin Coste, Thibault Zweier, Markus Oktay, Yavuz Danial-Farran, Nada Rosti, Vittorio Bonasoni, Maria Paola Malara, Alessandro Contrò, Gianluca Zuntini, Roberta Pollazzon, Marzia Pascarella, Rosario Neri, Alberto Fusco, Carlo Marafi, Dana Mitani, Tadahiro Posey, Jennifer Ellen Bayramoglu, Sadik Etka Gezdirici, Alper Hernandez-Rodriguez, Jessica Cladera, Emilia Amengual Miravet, Elena Roldan-Busto, Jorge Ruiz, María Angeles Bauzá, Cristofol Vives Ben-Sira, Liat Sigaudy, Sabine Begemann, Anaïs Unger, Sheila Güngör, Serdal Hiz, Semra Sonmezler, Ece Zehavi, Yoav Jerdev, Michael Balduini, Alessandra Zuffardi, Orsetta Horvath, Rita Lochmüller, Hanns Rauch, Anita Garavelli, Livia Tournier-Lasserve, Elisabeth Spiegel, Ronen Lupski, James R. Errichiello, Edoardo |
Verschenen in: |
The American journal of human genetics |
Paginering: |
Jaargang 110 () nr. 4 pagina's 681-690 |
Jaar: |
2023 |
Inhoud: |
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Uitgever: |
American Society of Human Genetics |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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