Prolonged blooming season of flower plantings increases wild bee abundance and richness in agricultural landscapes von Neumüller, Ulrich, Burger, Hannah, Schwenninger, Hans Richard, Hopfenmüller, Sebastian, Krausch, Sabrina, Weiß, Karin, Ayasse, Manfred

Volltext

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels von Einhorn, Yaron, Einhorn, Moshe, Kurolap, Alina, Steinberg, Dror, Mory, Adi, Bazak, Lily, Paperna, Tamar, Grinshpun-Cohen, Julia, Basel-Salmon, Lina, Weiss, Karin, Singer, Amihood, Yaron, Yuval, Baris Feldman, Hagit

Volltext

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome von Crippa, Milena, Bestetti, Ilaria, Maitz, Silvia, Weiss, Karin, Spano, Alice, Masciadri, Maura, Smithson, Sarah, Larizza, Lidia, Low, Karen, Cohen, Lior, Finelli, Palma

Volltext

A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome-Case Report von Pollack, Shirley, Eisenstein, Israel, Mory, Adi, Paperna, Tamar, Ofir, Ayala, Baris-Feldman, Hagit, Weiss, Karin, Veszeli, Nora, Csuka, Dorottya, Shemer, Revital, Glaser, Fabian, Prohaszka, Zoltan, Magen, Daniella

Volltext

RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function von Samra, Nadra, Toubiana, Shir, Yttervik, Hilde, Tzur-Gilat, Aya, Morani, Ilham, Itzkovich, Chen, Giladi, Liran, Abu Jabal, Kamal, Cao, John Z., Godley, Lucy A., Mory, Adi, Baris Feldman, Hagit, Tveten, Kristian, Selig, Sara, Weiss, Karin

Volltext

The Ampakine CX546 Restores the Prepulse Inhibition and Latent Inhibition Deficits in mGluR5-Deficient Mice von LIPINA, Tatiana, WEISS, Karin, RODER, John

Volltext

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly von Stokes, Bethany, Berger, Seth I., Hall, Beth A., Weiss, Karin, Martinez, Ariel F., Hadley, Donald W., Murdock, David R., Ramanathan, Subhadra, Clark, Robin D., Roessler, Erich, Kruszka, Paul, Muenke, Maximilian

Volltext

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management von Nakhleh Francis, Yara, Hershkovitz, Tova, Ekhilevitch, Nina, Habib, Clair, Ravid, Sarit, Tal, Galit, Schertz, Mitchell, Mory, Adi, Zinger, Amihood, Baris Feldman, Hagit, Zaid, Rinat, Paperna, Tamar, Weiss, Karin

Volltext

Hybrid Solar-Geothermal Energy Absorption Air-Conditioning System Operating with NaOH-H2O—Las Tres Vírgenes (Baja California Sur), “La Reforma” Case von Galindo-Luna, Yuridiana, Gómez-Arias, Efraín, Romero, Rosenberg, Venegas-Reyes, Eduardo, Montiel-González, Moisés, Unland-Weiss, Helene, Pacheco-Hernández, Pedro, González-Fernández, Antonio, Díaz-Salgado, Jorge

Volltext

Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt von Weiss, Karin, Kurolap, Alina, Paperna, Tamar, Mory, Adi, Steinberg, Maya, Hershkovitz, Tova, Ekhilevitch, Nina, Baris, Hagit N

Volltext

The clinical management of type 2 Gaucher disease von Weiss, Karin, Gonzalez, Ashley N., Lopez, Grisel, Pedoeim, Leah, Groden, Catherine, Sidransky, Ellen

Volltext

Favourite plants of wild bees von Kuppler, Jonas, Neumüller, Ulrich, Mayr, Antonia Veronika, Hopfenmüller, Sebastian, Weiss, Karin, Prosi, Rainer, Schanowski, Arno, Schwenninger, Hans-Richard, Ayasse, Manfred, Burger, Hannah

Volltext

eP174 - Exome sequencing for neurodevelopmental disorders and the effect on patient management – a single center experience von Weiss, Karin, Hershkovitz, Tova, Ekhilevitch, Nina, Zaid, Rinat, Mory, Adi, Feldman, Hagit Baris, Paperna, Tamar

Volltext

Exome sequencing for neurodevelopmental disorders and the effect on patient management – a single center experience von Weiss, Karin, Hershkovitz, Tova, Ekhilevitch, Nina, Zaid, Rinat, Mory, Adi, Feldman, Hagit Baris, Paperna, Tamar

Volltext

Rapid exome sequencing for children with severe acute encephalopathy – A case series von Habib, Clair, Paperna, Tamar, Zaid, Rinat, Ravid, Sarit, Ben Ari, Josef, Tal, Galit, Weiss, Karin, Hershkovitz, Tova

Volltext

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly von Kruszka, Paul, Berger, Seth I., Weiss, Karin, Everson, Joshua L., Martinez, Ariel F., Hong, Sungkook, Anyane-Yeboa, Kwame, Lipinski, Robert J., Muenke, Maximilian

Volltext

Refugees in Europe: national overviews from key countries with a special focus on child and adolescent mental health von Hodes, Matthew, Vasquez, Melisa Mendoza, Anagnostopoulos, Dimitris, Triantafyllou, Kalliopi, Abdelhady, Dalia, Weiss, Karin, Koposov, Roman, Cuhadaroglu, Fusun, Hebebrand, Johannes, Skokauskas, Norbert

Volltext

Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome von Kalailingam, Pazhanichamy, Wang, Kai Qi, Toh, Xiu Ru, Nguyen, Toan Q., Chandrakanthan, Madhuvanthi, Hasan, Zafrul, Habib, Clair, Schif, Aharon, Radio, Francesca Clementina, Dallapiccola, Bruno, Weiss, Karin, Nguyen, Long N.

Volltext

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism von Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane

Volltext

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms von Weiss, Karin, Terhal, Paulien A., Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F., Rosenfeld, Jill A., Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M., Bernstein, Jonathan A., Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R., van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M., Muenke, Maximilian

Volltext