Search Results - Zaki, Maha S.

Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers by Zaki, Maha S, Sattar, Shifteh, Massoudi, Rustin A, Gleeson, Joseph G

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Familial Congenital Unilateral Cerebral Ventriculomegaly: Delineation of a Distinct Genetic Disorder by Zaki, Maha S., Afifi, Hanan H., Barkovich, AJ., Gleeson, Joseph G.

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Dandy–Walker Malformation, Genitourinary Abnormalities, and Intellectual Disability in Two Families by Zaki, Maha S., Masri, Amira, Gregor, Anne, Gleeson, Joseph G., Rosti, Rasim Ozgur

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Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly by Ismail, Samira, Schaffer, Ashleigh E., Rosti, Rasim O., Gleeson, Joseph G., Zaki, Maha S.

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A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities by Kaiyrzhanov, Rauan, Zaki, Maha S., Maroofian, Reza, Dominik, Natalia, Rad, Aboulfazl, Vona, Barbara, Houlden, Henry

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Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients by Sharaf-Eldin, Wessam E., Issa, Mahmoud Y., Zaki, Maha S., Kilany, Ayman, Fayez, Alaaeldin G.

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Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation by Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J.

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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree by Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.

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

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A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS) by Abdel-Salam, Ghada MH, Schaffer, Ashleigh E, Zaki, Maha S, Dixon-Salazar, Tracy, Mostafa, Inas S, Afifi, Hanan H, Gleeson, Joseph G

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New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect by Zaki, Maha S, Salam, Ghada M H Abdel, Saleem, Sahar N, Dobyns, William B, Issa, Mahmoud Y, Sattar, Shifteh, Gleeson, Joseph G

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Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations by Elsayed, Solaf M, Heller, Raoul, Thoenes, Michaela, Zaki, Maha S, Swan, Daniel, Elsobky, Ezzat, Zühlke, Christine, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J

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Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients by Zaki, Maha S., Selim, Laila, EL-Bassyouni, Hala T., Issa, Mahmoud Y., Mahmoud, Iman, Ismail, Samira, Girgis, Mariane, Sadek, Abdelrahim A., Gleeson, Joseph G., Abdel Hamid, Mohamed S.

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Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome by 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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Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation by Zaki, Maha S., Saleem, Sahar N., Dobyns, William B., Barkovich, A. James, Bartsch, Hauke, Dale, Anders M., Ashtari, Manzar, Akizu, Naiara, Gleeson, Joseph G., Grijalvo-Perez, Ana Maria

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Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia by Ghosh, Shereen G., Breuss, Martin W., Schlachetzki, Zinayida, Chai, Guoliang, Ross, Danica, Stanley, Valentina, Sonmez, F. Mujgan, Topaloglu, Haluk, Zaki, Maha S., Hosny, Heba, Gad, Shaimaa, Gleeson, Joseph G.

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PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive by Zaki, Maha S., Bhat, Gifty, Sultan, Tipu, Issa, Mahmoud, Jung, Hea-Jin, Dikoglu, Esra, Selim, Laila, Gamal, Imam, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada, Marin-Valencia, Isaac, Gleeson, Joseph G.

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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome by Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Samia, Alkuraya, Fowzan S.

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Extending the Mutation Spectrum for Galloway–Mowat Syndrome to Include Homozygous Missense Mutations in the WDR73 Gene by Rosti, Rasim O., Dikoglu, Esra, Zaki, Maha S., Abdel-Salam, Ghada, Makhseed, Nawal, Sese, Jordan C., Musaev, Damir, Rosti, Basak, Harbert, Mary J., Jones, Marilyn C., Vaux, Keith K., Gleeson, Joseph G.

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Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families by Issa, Mahmoud Y., Chechlacz, Zinayida, Stanley, Valentina, George, Renee D., McEvoy-Venneri, Jennifer, Belandres, Denice, Elbendary, Hasnaa M., Gaber, Khaled R., Nabil, Ahmed, Abdel-Hamid, Mohamed S., Zaki, Maha S., Gleeson, Joseph G.

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