نتائج البحث - Vasudevan, Pradeep

A clinical approach to developmental delay and intellectual disability حسب Vasudevan, Pradeep, Suri, Mohnish

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Response حسب Vasudevan, Pradeep C, Suri, Mohnish

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Homologues of the Bacillus subtilis SpoVB Protein Are Involved in Cell Wall Metabolism حسب Vasudevan, Pradeep, McElligott, Jessica, Attkisson, Christa, Betteken, Michael, Popham, David L.

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Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family حسب Jain, Vani, Feehally, John, Jones, Gabriela, Robertson, Lisa, Nair, Dheepa, Vasudevan, Pradeep

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Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mut... حسب Vasudevan, Pradeep, Powell, Corrina, Nicholas, Adeline K, Scudamore, Ian, Greening, James, Park, Soo-Mi, Schoenmakers, Nadia

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Retinal and optic nerve changes in microcephaly: An optical coherence tomography study حسب Papageorgiou, Eleni, Pilat, Anastasia, Proudlock, Frank, Lee, Helena, Purohit, Ravi, Sheth, Viral, Vasudevan, Pradeep, Gottlob, Irene

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De Novo Mutations in HNRNPU Result in a Neurodevelopmental Syndrome حسب Yates, T Michael, Vasudevan, Pradeep, Chandler, Kate E, Donnelly, Deirdre E, Stark, Zornitza, Sadedin, Simon, Willoughby, Josh, Balasubramanian, Meena

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Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss حسب Nixon, Thomas, Richards, Allan J., Lomas, Adrian, Abbs, Stephen, Vasudevan, Pradeep, McNinch, Annie, Alexander, Philip, Snead, Martin P.

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A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders حسب King, Daniel A., Fitzgerald, Tomas W., Miller, Ray, Canham, Natalie, Clayton-Smith, Jill, Johnson, Diana, Mansour, Sahar, Stewart, Fiona, Vasudevan, Pradeep, Hurles, Matthew E.

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Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3 حسب Hurst, Jane A, Jenkins, Dagan, Vasudevan, Pradeep C, Kirchhoff, Maria, Skovby, Flemming, Rieubland, Claudine, Gallati, Sabina, Rittinger, Olaf, Kroisel, Peter M, Johnson, David, Biesecker, Leslie G, Wilkie, Andrew OM

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Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene حسب Suter, Aude‐Annick, Itin, Peter, Heinimann, Karl, Ahmed, Munaza, Ashraf, Tazeen, Fryssira, Helen, Kini, Usha, Lapunzina, Pablo, Miny, Peter, Sommerlund, Mette, Suri, Mohnish, Vaeth, Signe, Vasudevan, Pradeep, Gallati, Sabina

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Detection of structural mosaicism from targeted and whole-genome sequencing data حسب King, Daniel A., Sifrim, Alejandro, Fitzgerald, Tomas W., Rahbari, Raheleh, Hobson, Emma, Homfray, Tessa, Mansour, Sahar, Mehta, Sarju G., Shehla, Mohammed, Tomkins, Susan E., Vasudevan, Pradeep C., Hurles, Matthew E.

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Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome حسب Ogi, Tomoo, Walker, Sarah, Stiff, Tom, Hobson, Emma, Limsirichaikul, Siripan, Carpenter, Gillian, Prescott, Katrina, Suri, Mohnish, Byrd, Philip J., Matsuse, Michiko, Mitsutake, Norisato, Nakazawa, Yuka, Vasudevan, Pradeep, Barrow, Margaret, Stewart, Grant S., Taylor, A. Malcolm R., O'Driscoll, Mark, Jeggo, Penny A.

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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations حسب Jones, Gabriela E, Ostergaard, Pia, Moore, Anthony T, Connell, Fiona C, Williams, Denise, Quarrell, Oliver, Brady, Angela F, Spier, Isabel, Hazan, Filiz, Moldovan, Oana, Wieczorek, Dagmar, Mikat, Barbara, Petit, Florence, Coubes, Christine, Saul, Robert A, Brice, Glen, Gordon, Kristiana, Jeffery, Steve, Mortimer, Peter S, Vasudevan, Pradeep C, Mansour, Sahar

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No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome حسب Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy JL, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fieggen, Karen, Jones, Katheryn, Lipson, Mark, Balikova, Irina, Singer, Ami, Soller, Maria, Mercedes Villanueva, María, Revencu, Nicole, Boon, Laurence M, Brouillard, Pascal, Vikkula, Miikka

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ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome حسب Glass, Graeme E., O'Hara, Justine, Canham, Natalie, Cilliers, Deirdre, Dunaway, David, Fenwick, Aimee L., Jeelani, Noor‐Owase, Johnson, David, Lester, Tracy, Lord, Helen, Morton, Jenny E. V., Nishikawa, Hiroshi, Noons, Peter, Schwiebert, Kemmy, Shipster, Caroleen, Taylor‐Beadling, Alison, Twigg, Stephen R. F., Vasudevan, Pradeep, Wall, Steven A., Wilkie, Andrew O. M., Wilson, Louise C.

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Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects حسب Bonnefoy, Serge, Watson, Christopher M., Kernohan, Kristin D., Lemos, Moara, Hutchinson, Sebastian, Poulter, James A., Crinnion, Laura A., Berry, Ian, Simmonds, Jennifer, Vasudevan, Pradeep, O’Callaghan, Chris, Hirst, Robert A., Rutman, Andrew, Huang, Lijia, Hartley, Taila, Grynspan, David, Moya, Eduardo, Li, Chunmei, Carr, Ian M., Bonthron, David T., Leroux, Michel, Boycott, Kym M., Bastin, Philippe, Sheridan, Eamonn G.

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Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy حسب Ostergaard, Pia, Simpson, Michael A., Mendola, Antonella, Vasudevan, Pradeep, Connell, Fiona C., van Impel, Andreas, Moore, Anthony T., Loeys, Bart L., Ghalamkarpour, Arash, Onoufriadis, Alexandros, Martinez-Corral, Ines, Devery, Sophie, Leroy, Jules G., van Laer, Lut, Singer, Amihood, Bialer, Martin G., McEntagart, Meriel, Quarrell, Oliver, Brice, Glen, Trembath, Richard C., Schulte-Merker, Stefan, Makinen, Taija, Vikkula, Miikka, Mortimer, Peter S., Mansour, Sahar, Jeffery, Steve

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Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome حسب Hussain, Muhammad Sajid, Battaglia, Agatino, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi, Altmüller, Janine, Thiele, Holger, Nürnberg, Gudrun, Moosa, Shahida, Yigit, Gökhan, Beleggia, Filippo, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda, Brancati, Francesco, Dobbie, Angus, Śmigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G., Nürnberg, Peter

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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature حسب Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe

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