NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski von Thiel, Christian, Kessler, Kristin, Giessl, Andreas, Dimmler, Arno, Shalev, Stavit A., von der Haar, Sigrun, Zenker, Martin, Zahnleiter, Diana, Stöss, Hartmut, Beinder, Ernst, Abou Jamra, Rami, Ekici, Arif B., Schröder-Kreß, Nadja, Aigner, Thomas, Kirchner, Thomas, Reis, André, Brandstätter, Johann H., Rauch, Anita

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A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1 von Felipe-Medina, Natalia, Caburet, Sandrine, Sánchez-Sáez, Fernando, Condezo, Yazmine B, de Rooij, Dirk G, Gómez-H, Laura, Garcia-Valiente, Rodrigo, Todeschini, Anne Laure, Duque, Paloma, Sánchez-Martin, Manuel Adolfo, Shalev, Stavit A, Llano, Elena, Veitia, Reiner A, Pendás, Alberto M

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Genetics of hearing loss in the Arab population of Northern Israel von Danial-Farran, Nada, Brownstein, Zippora, Gulsuner, Suleyman, Tammer, Luna, Khayat, Morad, Aleme, Ola, Chervinsky, Elena, Zoubi, Olfat Aboleile, Walsh, Tom, Ast, Gil, King, Mary-Claire, Avraham, Karen B, Shalev, Stavit A

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Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9 von Barel, Ortal, Shalev, Stavit A., Ofir, Rivka, Cohen, Asi, Zlotogora, Joel, Shorer, Zamir, Mazor, Galia, Finer, Gal, Khateeb, Shareef, Zilberberg, Noam, Birk, Ohad S.

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A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family von Khayat, Morad, Tilghman, Joseph Mark, Chervinsky, Ilana, Zalman, Lucia, Chakravarti, Aravinda, Shalev, Stavit A.

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SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis von Spiegel, Ronen, Shaag, Avraham, Edvardson, Simon, Mandel, Hanna, Stepensky, Polina, Shalev, Stavit A., Horovitz, Yoseph, Pines, Ophry, Elpeleg, Orly

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KCNK9 imprinting syndrome-further delineation of a possible treatable disorder von Graham Jr, John M., Zadeh, Neda, Kelley, Melissa, Tan, Ee Shien, Liew, Wendy, Tan, Victoria, Deardorff, Matthew A., Wilson, Golder N., Sagi-Dain, Lena, Shalev, Stavit A.

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Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia von Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, Stavit A., Superti-Furga, Andrea, Delezoide, Anne-Lise, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

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Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis von RAMESH, VENKATESWARAN, BERNARDI, BRUNO, STAFA, ALTIN, GARONE, CATERINA, FRANZONI, EMILIO, ABINUN, MARIO, MITCHELL, PATRICK, MITRA, DIPAYAN, FRISWELL, MARK, NELSON, JOHN, SHALEV, STAVIT A, RICE, GILLIAN I, GORNALL, HANNAH, SZYNKIEWICZ, MARCIN, AYMARD, FRANÇOIS, GANESAN, VIJEYA, PRENDIVILLE, JULIE, LIVINGSTON, JOHN H, CROW, YANICK J

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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship von Spiegel, Ronen, Mandel, Hanna, Saada, Ann, Lerer, Issy, Burger, Ayala, Shaag, Avraham, Shalev, Stavit A, Jabaly-Habib, Haneen, Goldsher, Dorit, Gomori, John M, Lossos, Alex, Elpeleg, Orly, Meiner, Vardiella

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Chronic Recurrent Multifocal Osteomyelitis and Deficiency of Interleukin-1–receptor Antagonist von Sakran, Waheeb, Shalev, Stavit A, Sakran, Waheeb, El-Shanti, Hatem, Uziel, Yosef

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MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence von Goldberg, Yael, Aleme, Ola, Peled-Perets, Lilach, Castellvi-Bel, Sergi, Nielsen, Maartje, Shalev, Stavit A.

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The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases von Schrier, Samantha A., Bodurtha, Joann N., Burton, Barbara, Chudley, Albert E., Chiong, Mary Anne D., D'avanzo, Maria Gabriella, Lynch, Sally Ann, Musio, Antonio, Nyazov, Dmitriy M., Sanchez-Lara, Pedro A., Shalev, Stavit A., Deardorff, Matthew A.

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Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa von Collin, Rob W.J., Safieh, Christine, Littink, Karin W., Shalev, Stavit A., Garzozi, Hanna J., Rizel, Leah, Abbasi, Anan H., Cremers, Frans P.M., den Hollander, Anneke I., Klevering, B. Jeroen, Ben-Yosef, Tamar

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Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) von Auslender, Ron, Zerres, Klaus, Varshavsky, Alexander, Shalev, Stavit A, Zenker, Martin, Vanlieferinghen, Philippe, Tagariello, Andreas, Vieira, Marta W, Gil-da-Silva-Lopes, Vera L, Rauh, Manfred, Dumic, Miroslav, Beier, Matthias, Gershoni-Baruch, Ruth, Winterpacht, Andreas, Guzman, Celina, Hamel, Ben, Kwon, Yong Tae, Lerch, Markus M, Reis, André, Thiel, Christian, Mayerle, Julia, Hülskamp, Georg, Rehder, Helga, Durie, Peter R, Beemer, Frits A, Steinlicht, Simone

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The clinical spectrum of fetal Niemann–Pick type C von Spiegel, Ronen, Raas‐Rothschild, Annick, Reish, Orit, Regev, Miriam, Meiner, Vardiella, Bargal, Ruth, Sury, Vivi, Meir, Karen, Nadjari, Michel, Hermann, Gratiana, Iancu, Theodor C., Shalev, Stavit A., Zeigler, Marsha

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Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations von Spiegel, Ronen, Dobbie, Angus, Hartman, Corina, de Vries, Liat, Ellard, Sian, Shalev, Stavit A.

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Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy von Sharkia, Rajech, Shalev, Stavit A., Zalan, Abdelnaser, Marom‐David, Milit, Watemberg, Nathan, Urquhart, Jill E., Daly, Sarah B., Bhaskar, Sanjeev S., Williams, Simon G., Newman, William G., Spiegel, Ronen, Azem, Abdussalam, Elpeleg, Orly, Mahajnah, Muhammad

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The distribution of regions of homozygosity (ROH) among consanguineous populations-implications for a routine genetic counseling service von Gafni-Amsalem, Chen, Warwar, Nasim, Khayat, Morad, Tatour, Yasmin, Abuleil-Zuabi, Olfat, Campisi-Pinto, Salvatore, Carmi, Shai, Shalev, Stavit A

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ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency von Spiegel, Ronen, Shalev, Stavit A, Adawi, Amin, Sprecher, Eli, Tenenbaum-Rakover, Yardena

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