No association between SCN9A and monogenic human epilepsy disorders von Fasham, James, Leslie, Joseph S., Harrison, Jamie W., Deline, James, Williams, Katie B., Kuhl, Ashley, Schwoerer, Jessica Scott, Cross, Harold E., Crosby, Andrew H., Baple, Emma L.

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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder von Ammous, Zineb, Rawlins, Lettie E., Jones, Hannah, Leslie, Joseph S., Wenger, Olivia, Scott, Ethan, Deline, Jim, Herr, Tom, Evans, Rebecca, Scheid, Angela, Kennedy, Joanna, Chioza, Barry A., Ames, Ryan M., Cross, Harold E., Puffenberger, Erik G., Harries, Lorna, Baple, Emma L., Crosby, Andrew H.

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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia von Tábara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund R S, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L

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SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission von Fasham, James, Huebner, Antje K, Liebmann, Lutz, Khalaf-Nazzal, Reham, Maroofian, Reza, Kryeziu, Nderim, Wortmann, Saskia B, Leslie, Joseph S, Ubeyratna, Nishanka, Mancini, Grazia M S, van Slegtenhorst, Marjon, Wilke, Martina, Haack, Tobias B, Shamseldin, Hanan E, Gleeson, Joseph G, Almuhaizea, Mohamed, Dweikat, Imad, Abu-Libdeh, Bassam, Daana, Muhannad, Zaki, Maha S, Wakeling, Matthew N, McGavin, Lucy, Turnpenny, Peter D, Alkuraya, Fowzan S, Houlden, Henry, Schlattmann, Peter, Kaila, Kai, Crosby, Andrew H, Baple, Emma L, Hübner, Christian A

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Biallelic PI4KA variants cause neurological, intestinal and immunological disease von Salter, Claire G., Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S., Accogli, Andrea, Zara, Federico, Traverso, Monica, Fasham, James, Lees, Joshua A., Ferla, Matteo P., Chioza, Barry A., Wenger, Olivia, Scott, Ethan, Cross, Harold E., Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Melver, Catherine Ward, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew N., Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Vockley, Catherine Walsh, Butte, Manish J., Acar, Utkucan, van der Knaap, Marjo S., Korenke, G. Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H., Crosby, Andrew H., De Camilli, Pietro, Wolf, Nicole, Baple, Emma L.

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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder von Khalaf-Nazzal, Reham, Fasham, James, Inskeep, Katherine A., Blizzard, Lauren E., Leslie, Joseph S., Wakeling, Matthew N., Ubeyratna, Nishanka, Mitani, Tadahiro, Griffith, Jennifer L., Baker, Wisam, Al-Hijawi, Fida’, Keough, Karen C., Gezdirici, Alper, Pena, Loren, Spaeth, Christine G., Turnpenny, Peter D., Walsh, Joseph R., Ray, Randall, Neilson, Amber, Kouranova, Evguenia, Cui, Xiaoxia, Curiel, David T., Pehlivan, Davut, Akdemir, Zeynep Coban, Posey, Jennifer E., Lupski, James R., Dobyns, William B., Stottmann, Rolf W., Crosby, Andrew H., Baple, Emma L.

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Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder von Rawlins, Lettie E., Maroofian, Reza, Cannon, Stuart J., Daana, Muhannad, Zamani, Mina, Ghani, Shamsul, Leslie, Joseph S., Ubeyratna, Nishanka, Khan, Nasar, Khan, Hamid, Scardamaglia, Annarita, Cloarec, Robin, Khan, Shujaat Ali, Umair, Muhammad, Sadeghian, Saeid, Galehdari, Hamid, Al-Maawali, Almundher, Al-Kindi, Adila, Azizimalamiri, Reza, Shariati, Gholamreza, Ahmad, Faraz, Al-Futaisi, Amna, Rodriguez Cruz, Pedro M., Salazar-Villacorta, Ainara, Ndiaye, Moustapha, Diop, Amadou G., Sedaghat, Alireza, Saberi, Alihossein, Hamid, Mohammad, Zaki, Maha S., Vona, Barbara, Owrang, Daniel, Alhashem, Abdullah M., Obeid, Makram, Khan, Amjad, Beydoun, Ahmad, Najjar, Marwan, Tajsharghi, Homa, Zifarelli, Giovanni, Bauer, Peter, Hakami, Wejdan S., Al Hashem, Amal M., Boustany, Rose-Mary N., Burglen, Lydie, Alavi, Shahryar, Gunning, Adam C., Owens, Martina, Karimiani, Ehsan G., Gleeson, Joseph G., Milh, Mathieu, Salah, Somaya, Khan, Jahangir, Haucke, Volker, Wright, Caroline F., McGavin, Lucy, Elpeleg, Orly, Shabbir, Muhammad I., Houlden, Henry, Ebner, Michael, Baple, Emma L., Crosby, Andrew H.

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MNS1 variant associated with situs inversus and male infertility von Leslie, Joseph S., Rawlins, Lettie E., Chioza, Barry A., Olubodun, Oluwaseun R., Salter, Claire G., Fasham, James, Jones, Hannah F., Cross, Harold E., Lam, Simon, Harlalka, Gaurav, Muggenthaler, Martina M. A., Crosby, Andrew H., Baple, Emma L.

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Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice von Rawlins, Lettie E, Almousa, Hashem, Khan, Shazia, Collins, Stephan C, Milev, Miroslav P, Leslie, Joseph, Saint-Dic, Djenann, Khan, Valeed, Hincapie, Ana Maria, Day, Jacob O, McGavin, Lucy, Rowley, Christine, Harlalka, Gaurav V, Vancollie, Valerie E, Ahmad, Wasim, Lelliott, Christopher J, Gul, Asma, Yalcin, Binnaz, Crosby, Andrew H, Sacher, Michael, Baple, Emma L

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Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency von Lin, Siying, Fasham, James, Al-Hijawi, Fida', Qutob, Nouar, Gunning, Adam, Leslie, Joseph S., McGavin, Lucy, Ubeyratna, Nishanka, Baker, Wisam, Zeid, Ramez, Turnpenny, Peter D., Crosby, Andrew H., Baple, Emma L., Khalaf-Nazzal, Reham

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Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities von Leslie, Joseph S., Hjeij, Rim, Vivante, Asaf, Bearce, Elizabeth A., Dyer, Laura, Wang, Jiaolong, Rawlins, Lettie, Kennedy, Joanna, Ubeyratna, Nishanka, Fasham, James, Irons, Zoe H., Craig, Samuel B., Koenig, Julia, George, Sebastian, Pode-Shakked, Ben, Bolkier, Yoav, Barel, Ortal, Mane, Shrikant, Frederiksen, Kathrine K., Wenger, Olivia, Scott, Ethan, Cross, Harold E., Lorentzen, Esben, Norris, Dominic P., Anikster, Yair, Omran, Heymut, Grimes, Daniel T., Crosby, Andrew H., Baple, Emma L.

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Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform von Rickman, Olivia J., Salter, Claire G., Gunning, Adam C., Fasham, James, Voutsina, Nikol, Leslie, Joseph S., McGavin, Lucy, Cross, Harold E., Posey, Jennifer E., Akdemir, Zeynep Coban, Jhangiani, Shalini N., Lupski, James R., Baple, Emma L., Crosby, Andrew H.

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Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement von Hjeij, Rim, Leslie, Joseph, Rizk, Hoda, Dworniczak, Bernd, Olbrich, Heike, Raidt, Johanna, Bode, Sebastian Felix Nepomuk, Gardham, Alice, Stals, Karen, Al-Haggar, Mohammad, Osman, Engy, Crosby, Andrew, Eldesoky, Tarek, Baple, Emma, Omran, Heymut

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Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B) von Lin, Siying, Sanchez-Bretaño, Aida, Leslie, Joseph S., Williams, Katie B., Lee, Helena, Thomas, N. Simon, Callaway, Jonathan, Deline, James, Ratnayaka, J. Arjuna, Baralle, Diana, Schmitt, Melanie A., Norman, Chelsea S., Hammond, Sheri, Harlalka, Gaurav V., Ennis, Sarah, Cross, Harold E., Wenger, Olivia, Crosby, Andrew H., Baple, Emma L., Self, Jay E.

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Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia von Khalaf-Nazzal, Reham, Fasham, James, Ubeyratna, Nishanka, Evans, David J., Leslie, Joseph S., Warner, Thomas T., Al-Hijawi, Fida', Alshaer, Shurouq, Baker, Wisam, Turnpenny, Peter D., Baple, Emma L., Crosby, Andrew H.

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The problem of reunion, discussed historically in seven essays von Walker, Leslie Joseph, 1877

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SEVERE HYPONATREMIA REFRACTORY TO TREATMENT: A CASE OF METOLAZONE INTOXICATION von ABREU-RAMIREZ, CHRISTIAN, PEAN, JOSEPH-LESLIE

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Theories of knowledge, absolutism, pragmatism, realism, by Leslie J. Walker von Walker, Leslie Joseph, 1877

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TECPR2‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine von Khalaf‐Nazzal, Reham, Dweikat, Imad, Ubeyratna, Nishanka, Fasham, James, Alawneh, Maysa, Leslie, Joseph, Maree, Mosab, Gunning, Adam, Zayed, Deyala Z., Voutsina, Nikol, McGavin, Lucy, Sawafta, Reem, Owens, Martina, Baker, Wisam, Turnpenny, Peter, Al‐Hijawi, Fida’, Baple, Emma L., Crosby, Andrew H., Rawlins, Lettie E.

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The effect of political-economic reform on the quality of financial reporting in Egypt von Makhaiel, Nargis Kaisar Boles, Sherer, Michael Leslie Joseph

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