檢索結果 - Silhavy, Jennifer

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome 由 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.

獲取全文 獲取全文 獲取全文

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria 由 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.

獲取全文 獲取全文

RPGRIP1L mutations are mainly associated with the cerebellorenal phenotype of Joubert Syndrome Related Disorders 由 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

獲取全文 獲取全文 獲取全文

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities 由 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.

獲取全文 獲取全文 獲取全文

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly 由 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

獲取全文 獲取全文 獲取全文

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features 由 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

獲取全文 獲取全文 獲取全文

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly 由 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.

獲取全文 獲取全文 獲取全文

Mutations in CSPP1 Lead to Classical Joubert Syndrome 由 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.

獲取全文 獲取全文 獲取全文

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy 由 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.

獲取全文 獲取全文 獲取全文

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders 由 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

獲取全文 獲取全文 獲取全文

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies 由 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.

獲取全文 獲取全文 獲取全文

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome 由 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.

獲取全文 獲取全文 獲取全文