نتائج البحث - Silhavy, Jennifer

Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia حسب Friedman, Jennifer, Feigenbaum, Annette, Chuang, Nathaniel, Silhavy, Jennifer, Gleeson, Joseph G.

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Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance حسب Friedman, Jennifer, Olvera, Jesus, Silhavy, Jennifer L., Gabriel, Stacey B., Gleeson, Joseph G.

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A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance حسب Ali, Bassam R, Silhavy, Jennifer L, Akawi, Nadia A, Gleeson, Joseph G, Al-Gazali, Lihadh

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A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion حسب Ali, Bassam R, Silhavy, Jennifer L, Gleeson, Matthew J, Gleeson, Joseph G, Al-Gazali, Lihadh

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Complete Genomic Sequence of Bacteriophage B3, a Mu-Like Phage of Pseudomonas aeruginosa حسب Braid, Michael D., Silhavy, Jennifer L., Kitts, Christopher L., Cano, Raul J., Howe, Martha M.

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Expanding the Clinical Spectrum of SPG11 Gene Mutations in Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum حسب Aleem, Alice Abdel, Abu-Shahba, Nourhan, Swistun, Dominika, Silhavy, Jennifer, Bielas, Stephanie L., Sattar, Shifteh, Gleeson, Joseph G., Zaki, Maha

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Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome حسب Roosing, Susanne, Rosti, Rasim O., Rosti, Basak, de Vrieze, Erik, Silhavy, Jennifer L., van Wijk, Erwin, Wakeling, Emma, Gleeson, Joseph G.

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Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy حسب Lancaster, Madeline A, Louie, Carrie M, Silhavy, Jennifer L, Sintasath, Louis, DeCambre, Marvalyn, Nigam, Sanjay K, Willert, Karl, Gleeson, Joseph G

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Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome حسب Lancaster, Madeline A., Gopal, Dipika J., Kim, Joon, Saleem, Sahar N., Silhavy, Jennifer L., Louie, Carrie M., Thacker, Bryan E., Williams, Yuko, Zaki, Maha S., Gleeson, Joseph G.

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Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria حسب Dixon-Salazar, Tracy, Silhavy, Jennifer L., Marsh, Sarah E., Louie, Carrie M., Scott, Lesley C., Gururaj, Aithala, Al-Gazali, Lihadh, Al-Tawari, Asma A., Kayserili, Hulya, Sztriha, László, Gleeson, Joseph G.

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RPGRIP1L mutations are mainly associated with the cerebellorenal phenotype of Joubert Syndrome Related Disorders حسب Brancati, Francesco, Travaglini, Lorena, Zablocka, Dominika, Boltshauser, Eugen, Accorsi, Patrizia, Montagna, Giorgia, Silhavy, Jennifer L., Barrano, Giuseppe, Bertini, Enrico, Emma, Francesco, Rigoli, Luciana, Dallapiccola, Bruno, Gleeson, Joseph G, Valente, Enza Maria

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Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities حسب Radmanesh, Farid, Caglayan, Ahmet Okay, Silhavy, Jennifer L., Yilmaz, Cahide, Cantagrel, Vincent, Omar, Tarek, Rosti, Başak, Kaymakcalan, Hande, Gabriel, Stacey, Li, Mingfeng, Šestan, Nenad, Bilguvar, Kaya, Dobyns, William B., Zaki, Maha S., Gunel, Murat, Gleeson, Joseph G.

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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly حسب Lee, Jeong Ho, Huynh, My, Silhavy, Jennifer L, Kim, Sangwoo, Dixon-Salazar, Tracy, Heiberg, Andrew, Scott, Eric, Bafna, Vineet, Hill, Kiley J, Collazo, Adrienne, Funari, Vincent, Russ, Carsten, Gabriel, Stacey B, Mathern, Gary W, Gleeson, Joseph G

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A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features حسب Marin-Valencia, Isaac, Novarino, Gaia, Johansen, Anide, Rosti, Basak, Issa, Mahmoud Y, Musaev, Damir, Bhat, Gifty, Scott, Eric, Silhavy, Jennifer L, Stanley, Valentina, Rosti, Rasim O, Gleeson, Jeremy W, Imam, Farhad B, Zaki, Maha S, Gleeson, Joseph G

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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly حسب Jerber, Julie, Zaki, Maha S., Al-Aama, Jumana Y., Rosti, Rasim Ozgur, Ben-Omran, Tawfeg, Dikoglu, Esra, Silhavy, Jennifer L., Caglar, Caner, Musaev, Damir, Albrecht, Beate, Campbell, Kevin P., Willer, Tobias, Almuriekhi, Mariam, Çağlayan, Ahmet Okay, Vajsar, Jiri, Bilgüvar, Kaya, Ogur, Gonul, Abou Jamra, Rami, Günel, Murat, Gleeson, Joseph G.

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Mutations in CSPP1 Lead to Classical Joubert Syndrome حسب Akizu, Naiara, Silhavy, Jennifer L., Rosti, Rasim Ozgur, Scott, Eric, Fenstermaker, Ali G., Schroth, Jana, Zaki, Maha S., Sanchez, Henry, Gupta, Neerja, Kabra, Madhulika, Kara, Majdi, Ben-Omran, Tawfeg, Rosti, Basak, Guemez-Gamboa, Alicia, Spencer, Emily, Pan, Roger, Cai, Na, Abdellateef, Mostafa, Gabriel, Stacey, Halbritter, Jan, Hildebrandt, Friedhelm, van Bokhoven, Hans, Gunel, Murat, Gleeson, Joseph G.

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Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy حسب Novarino, Gaia, El-Fishawy, Paul, Kayserili, Hulya, Meguid, Nagwa A., Scott, Eric M., Schroth, Jana, Silhavy, Jennifer L., Kara, Majdi, Khalil, Rehab O., Ben-Omran, Tawfeg, Ercan-Sencicek, A. Gulhan, Hashish, Adel F., Sanders, Stephan J., Gupta, Abha R., Hashem, Hebatalla S., Matern, Dietrich, Gabriel, Stacey, Sweetman, Larry, Rahimi, Yasmeen, Harris, Robert A., State, Matthew W., Gleeson, Joseph G.

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders حسب Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Roberta Cilio, Maria, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria

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Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies حسب Bielas, Stephanie L., Silhavy, Jennifer L., Brancati, Francesco, Kisseleva, Marina V., Al-Gazali, Lihadh, Sztriha, Laszlo, Bayoumi, Riad A., Zaki, Maha S., Abdel-Aleem, Alice, Rosti, Ozgur, Kayserili, Hulya, Swistun, Dominika, Scott, Lesley C., Bertini, Enrico, Boltshauser, Eugen, Fazzi, Elisa, Travaglini, Lorena, Field, Seth J., Gayral, Stephanie, Jacoby, Monique, Schurmans, Stephane, Dallapiccola, Bruno, Majerus, Philip W., Valente, Enza Maria, Gleeson, Joseph G.

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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome حسب Cantagrel, Vincent, Silhavy, Jennifer L., Bielas, Stephanie L., Swistun, Dominika, Marsh, Sarah E., Bertrand, Julien Y., Audollent, Sophie, Attié-Bitach, Tania, Holden, Kenton R., Dobyns, William B., Traver, David, Al-Gazali, Lihadh, Ali, Bassam R., Lindner, Tom H., Caspary, Tamara, Otto, Edgar A., Hildebrandt, Friedhelm, Glass, Ian A., Logan, Clare V., Johnson, Colin A., Bennett, Christopher, Brancati, Francesco, Valente, Enza Maria, Woods, C. Geoffrey, Gleeson, Joseph G.

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