Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome von Kapur, Rajiv, Goyal, Manisha, Kapoor, Seema, Sanjeev, Rama Krishna, Gleeson, Joseph Gerard

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum von Katsanis, Nicholas, Davis, Erica E, Zhang, Qi, Liu, Qin, Diplas, Bill H, Davey, Lisa M, Hartley, Jane, Stoetzel, Corinne, Szymanska, Katarzyna, Ramaswami, Gokul, Logan, Clare V, Muzny, Donna M, Young, Alice C, Wheeler, David A, Cruz, Pedro, Morgan, Margaret, Lewis, Lora R, Cherukuri, Praveen, Maskeri, Baishali, Hansen, Nancy F, Mullikin, James C, Blakesley, Robert W, Bouffard, Gerard G, Gyapay, Gabor, Rieger, Susanne, Tönshoff, Burkhard, Kern, Ilse, Soliman, Neveen A, Neuhaus, Thomas J, Swoboda, Kathryn J, Kayserili, Hulya, Gallagher, Tomas E, Lewis, Richard A, Bergmann, Carsten, Otto, Edgar A, Saunier, Sophie, Scambler, Peter J, Beales, Philip L, Gleeson, Joseph G, Maher, Eamonn R, Attié-Bitach, Tania, Dollfus, Hélène, Johnson, Colin A, Green, Eric D, Gibbs, Richard A, Hildebrandt, Friedhelm, Pierce, Eric A

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Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration von Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik‐Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, De Marco, Patrizia, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T, Guzmán‐Vega, Francisco J, Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Boris, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl‐Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nicholas, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik‐Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan

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Clinical Pertinence Metric Enables Hypothesis-Independent Genome-Phenome Analysis for Neurologic Diagnosis von Segal, Michael M., Abdellateef, Mostafa, El-Hattab, Ayman W., Hilbush, Brian S., De La Vega, Francisco M., Tromp, Gerard, Williams, Marc S., Betensky, Rebecca A., Gleeson, Joseph

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Clinical Pertinence Metric Enables Hypothesis-Independent Genome-Phenome Analysis for Neurologic Diagnosis von Segal, Michael M, Abdellateef, Mostafa, El-Hattab, Ayman W, Hilbush, Brian S, De La Vega, Francisco M, Tromp, Gerard, Williams, Marc S, Betensky, Rebecca A, Gleeson, Joseph

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Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum von Davis, Erica E, Zhang, Qi, Liu, Qin, Diplas, Bill H, Davey, Lisa M, Hartley, Jane, Stoetzel, Corinne, Szymanska, Katarzyna, Ramaswami, Gokul, Logan, Clare V, Muzny, Donna M, Young, Alice C, Wheeler, David A, Cruz, Pedro, Morgan, Margaret, Lewis, Lora R, Cherukuri, Praveen, Maskeri, Baishali, Hansen, Nancy F, Mullikin, James C, Blakesley, Robert W, Bouffard, Gerard G, Gyapay, Gabor, Rieger, Susanne, Tönshoff, Burkhard, Kern, Ilse, Soliman, Neveen A, Neuhaus, Thomas J, Swoboda, Kathryn J, Kayserili, Hulya, Gallagher, Tomas E, Lewis, Richard A, Bergmann, Carsten, Otto, Edgar A, Saunier, Sophie, Scambler, Peter J, Beales, Philip L, Gleeson, Joseph G, Maher, Eamonn R, Attié-Bitach, Tania, Dollfus, Hélène, Johnson, Colin A, Green, Eric D, Gibbs, Richard A, Hildebrandt, Friedhelm, Pierce, Eric A, Katsanis, Nicholas

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Correction: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum von Davis, Erica E, Zhang, Qi, Liu, Qin, Diplas, Bill H, Davey, Lisa M, Hartley, Jane, Stoetzel, Corinne, Szymanska, Katarzyna, Ramaswami, Gokul, Logan, Clare V, Muzny, Donna M, Young, Alice C, Wheeler, David A, Cruz, Pedro, Morgan, Margaret, Lewis, Lora R, Cherukuri, Praveen, Maskeri, Baishali, Hansen, Nancy F, Mullikin, James C, Blakesley, Robert W, Bouffard, Gerard G, Gyapay, Gabor, Rieger, Susanne, Tönshoff, Burkhard, Kern, Ilse, Soliman, Neveen A, Neuhaus, Thomas J, Swoboda, Kathryn J, Kayserili, Hulya, Gallagher, Tomas E, Lewis, Richard A, Bergmann, Carsten, Otto, Edgar A, Saunier, Sophie, Scambler, Peter J, Beales, Philip L, Gleeson, Joseph G, Maher, Eamonn R, Attié-Bitach, Tania, Dollfus, Hélène, Johnson, Colin A, Green, Eric D, Gibbs, Richard A, Hildebrandt, Friedhelm, Pierce, Eric A, Katsanis, Nicholas

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