Zaki, Maha A.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

51

Screening seven common mitochondrial mutations in 28 Egyptian patients with suspected mitochondrial disease

Al-Ettribi, Ghada M.M., Effat, Laila K., El-Bassyouni, Hala T., Zaki, Maha S., Shanab, Gamila, Karim, Amr M.

Journal:

Middle East Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 697 KB

english, 2013

52

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennif

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 4.39 MB

english, 2015

53

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Guemez-Gamboa, Alicia, Nguyen, Long N, Yang, Hongbo, Zaki, Maha S, Kara, Majdi, Ben-Omran, Tawfeg, Akizu, Naiara, Rosti, Rasim Ozgur, Rosti, Basak, Scott, Eric, Schroth, Jana, Copeland, Brett, Vaux, K

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 1.38 MB

english, 2015

54

Abdominal Obesity and Endometrial Cancer in Egyptian Females With Postmenopausal Bleeding

Zaki, Adel, Gaber, Afaf, Ghanem, Ebrahim, Moemen, Maha, Shehata, Gihan

Journal:

Nutrition and Cancer

Year:

2011

Language:

english

File:

PDF, 127 KB

english, 2011

55

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

Shamseldin, Hanan E., Faqeih, Eissa, Alasmari, Ali, Zaki, Maha S., Gleeson, Joseph G., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

56

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

Makrythanasis, Periklis, Kato, Mitsuhiro, Zaki, Maha S., Saitsu, Hirotomo, Nakamura, Kazuyuki, Santoni, Federico A., Miyatake, Satoko, Nakashima, Mitsuko, Issa, Mahmoud Y., Guipponi, Michel, Letournea

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.71 MB

english, 2016

57

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

Zaki, Maha S., Selim, Laila, EL-Bassyouni, Hala T., Isaa, Mahmoud Y., Mahmoud, Iman, Ismail, Samira, Girgis, Mariane, Sadek, Abdelrahim A., Gleeson, Joseph G., Abdel Hamid, Mohamed S.

Journal:

European Journal of Paediatric Neurology

Year:

2016

Language:

english

File:

PDF, 2.36 MB

english, 2016

58

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families

Zaki, Maha S., Masri, Amira, Gregor, Anne, Gleeson, Joseph G., Rosti, Rasim Ozgur

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.42 MB

english, 2015

59

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

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

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 930 KB

english, 2016

60

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive

Zaki, Maha S., Bhat, Gifty, Sultan, Tipu, Issa, Mahmoud, Jung, Hea-Jin, Dikoglu, Esra, Selim, Laila, G. Mahmoud, Imam, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada, Marin-Valencia, Isaac, Gleeson, Jose

Journal:

Annals of Neurology

Year:

2016

Language:

english

File:

PDF, 662 KB

english, 2016

61

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nürnberg, Gudrun, Stern-Schneider, Gabi, Nürnberg, Peter, Karnati, Srikanth, Swan, Daniel, Fateen, Ekram, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I.,

Journal:

Year:

2016

Language:

english

File:

PDF, 634 KB

english, 2016

62

Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications

Mekkawy, Mona K., Mazen, Inas M., Kamel, Alaa K., Vater, Inga, Zaki, Maha S.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.52 MB

english, 2016

63

Adams???Oliver syndrome: further evidence of an autosomal recessive variant

Temtamy, Samia A., Aglan, Mona S., Ashour, Adel M., Zaki, Maha S.

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 473 KB

english, 2007

64

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations inMLC1andHEPACAMand a founder effect

Abdel-Salam, Ghada M. H., Abdel-Hamid, Mohamed S., Ismail, Samira I., Hosny, Heba, Omar, Tarek, Effat, Laila, Aglan, Mona S., Temtamy, Samia A., Zaki, Maha S.

Journal:

Metabolic Brain Disease

Year:

2016

Language:

english

File:

PDF, 4.48 MB

english, 2016

65

Unusual association of simplified gyral pattern and sparse hair in an Egyptian patient with microcephaly???lymphoedema

Mazen, Inas, Zaki, Maha S.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 198 KB

english, 2006

66

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

Li, Hongda, Bielas, Stephanie L., Zaki, Maha S., Ismail, Samira, Farfara, Dorit, Um, Kyongmi, Rosti, Rasim O., Scott, Eric C., Tu, Shu, Chi, Neil C., Gabriel, Stacey, Erson-Omay, Emine Z., Ercan-Senci

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.75 MB

english, 2016

67

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

Johansen, Anide, Rosti, Rasim O., Musaev, Damir, Sticca, Evan, Harripaul, Ricardo, Zaki, Maha, Çağlayan, Ahmet Okay, Azam, Matloob, Sultan, Tipu, Froukh, Tawfiq, Reis, André, Popp, Bernt, Ahmed, Iltaf

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 639 KB

english, 2016

68

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Tuschl, Karin, Clayton, Peter T., Gospe, Sidney M., Gulab, Shamshad, Ibrahim, Shahnaz, Singhi, Pratibha, Aulakh, Roosy, Ribeiro, Reinaldo T., Barsottini, Orlando G., Zaki, Maha S., Del Rosario, Maria

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 265 KB

english, 2016

69

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

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,

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.02 MB

english, 2016

70

Exome sequencing disclosesKALRNhomozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.63 MB

english, 2016

71

MN1 and PTEN gene expression in acute myeloid leukemia

Zayed, Rania A., Eltaweel, Maha A., Botros, Shahira K.A., Zaki, Mohamed A.

Journal:

Cancer Biomarkers

Year:

2017

Language:

english

File:

PDF, 422 KB

english, 2017

72

The effect of freeze-drying media and storage temperature on ultrastructure and DNA of freeze-dried buffalo bull spermatozoa

Shahba, Mohamed I., El-Sheshtawy, Reda I., El-Azab, Abdel-Salam I., Abdel-Ghaffar, Alaa E., Ziada, Maha S., Zaky, Adel A.

Journal:

Asian Pacific Journal of Reproduction

Year:

2016

Language:

english

File:

PDF, 2.94 MB

english, 2016

73

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Lardelli, Rea M, Schaffer, Ashleigh E, Eggens, Veerle R C, Zaki, Maha S, Grainger, Stephanie, Sathe, Shashank, Van Nostrand, Eric L, Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, S

Journal:

Nature Genetics

Year:

2017

Language:

english

File:

PDF, 3.43 MB

english, 2017

74

Niemann-Pick disease type C: a diagnostic challenge

Al Menabawy, Nihal M, Mahmoud, Iman G, EL Khateeb, Nour M, Sobhy, Ahmed M, Zaki, Maha S, Gleeson, Joseph, Rolfs, Arndt, Selim, Laila A

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

75

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract

Abdel-Hamid, Mohamed S., Issa, Mahmoud Y., Otaify, Ghada A., Zaki, Maha S.

Journal:

Metabolic Brain Disease

Year:

2017

Language:

english

File:

PDF, 2.44 MB

english, 2017

76

Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

Abdel-Hamid, Mohamed S, Abdel-Salam, Ghada M H, Issa, Mahmoud Y, Emam, Bayoumi A, Zaki, Maha S

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.29 MB

english, 2017

77

Aicardi-Goutières syndrome: unusual neuro-radiological manifestations

Abdel-Salam, Ghada M. H., Abdel-Hamid, Mohamed S., Mohammad, Shaimaa A., Abdel-Ghafar, Sherif F., Soliman, Doaa R., EL-Bassyouni, Hala T., Effat, Laila, Zaki, Maha S.

Journal:

Metabolic Brain Disease

Year:

2017

Language:

english

File:

PDF, 746 KB

english, 2017

78

Clinical and cytogenetic description of three patients with constitutional mosaic trisomy 8

Ismail, Samira, Kamel, Alaa K., Eid, Maha M., Elruby, Mona O., Aglan, Mona S., Mekkawy, Mona K., Zaki, Maha S., Mohamed, Amal M., Helmy, Nivine A., Temtamy, Samia A.

Journal:

Middle East Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 262 KB

english, 2017

79

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

Girgis, Marian Y., Zaki, Maha S., Selim, Laila, Mahmoud, Iman, Gleeson, Joseph G.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

80

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

Marin-Valencia, Isaac, Gerondopoulos, Andreas, Zaki, Maha S., Ben-Omran, Tawfeg, Almureikhi, Mariam, Demir, Ercan, Guemez-Gamboa, Alicia, Gregor, Anne, Issa, Mahmoud Y., Appelhof, Bart, Roosing, Susan

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.50 MB

english, 2017

81

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

De Mori, Roberta, Romani, Marta, D’Arrigo, Stefano, Zaki, Maha S., Lorefice, Elisa, Tardivo, Silvia, Biagini, Tommaso, Stanley, Valentina, Musaev, Damir, Fluss, Joel, Micalizzi, Alessia, Nuovo, Sara,

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.06 MB

english, 2017

82

Diagnostic accuracy of serum miR-122 and miR-199a in women with endometriosis

Maged, Ahmed M., Deeb, Wesam S., El Amir, Azza, Zaki, Sherif S., Sawah, Heba El, Al Mohamady, Maged, Metwally, Ahmed A., Katta, Maha A.

Journal:

International Journal of Gynecology & Obstetrics

Year:

2017

Language:

english

File:

PDF, 363 KB

english, 2017

83

Extracellular miR-145, miR-223 and miR-326 expression signature allow for differential diagnosis of immune-mediated neuroinflammatory diseases

Sharaf-Eldin, Wessam E., Kishk, Nirmeen A., Gad, Yehia Z., Hassan, Heba, Ali, Mohamed A.M., Zaki, Maha S., Mohamed, Mohamed R., Essawi, Mona L.

Journal:

Journal of the Neurological Sciences

Year:

2017

Language:

english

File:

PDF, 1.18 MB

english, 2017

84

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Gambi

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.33 MB

english, 2018

85

The antioxidant status of coenzyme Q10 and vitamin E in children with type 1 diabetes

Alkholy, Usama M., Abdalmonem, Nermin, Zaki, Ahmed, Elkoumi, Mohamed A., Hashim, Mustafa I. Abu, Basset, Maha A.A., Salah, Hossam E.

Journal:

Jornal de Pediatria

Year:

2018

Language:

english

File:

PDF, 340 KB

english, 2018

86

Sidr Kashmiry honey and its fractions induced apoptosis in hepatocellular carcinoma in vitro

Rady, Hanaa Mahrous, Hemmaid, Kamel Zaki, Esmaeil, Nora Naseef, Eid, Maha Mohamed, Elshat, Ahmed Ahmed

Journal:

Mediterranean Journal of Nutrition and Metabolism

Year:

2018

Language:

english

File:

PDF, 526 KB

english, 2018

87

Prooxidant Mechanisms in Toxicology

El-Ansary, Afaf K., Kotb, Malak, Rizk, Maha Zaki, Siddiqi, Nikhat J.

Journal:

BioMed Research International

Year:

2014

Language:

english

File:

PDF, 1.04 MB

english, 2014

88

Perceived Organisational Injustice and Counterproductive Behaviour: The Mediating Role of Work Alienation Evidence from the Egyptian Public Sector

Dajani, Maha Ahmed Zaki, Saad Mohamad, Mohamad

Journal:

International Journal of Business and Management

Year:

2017

Language:

english

File:

PDF, 344 KB

english, 2017

89

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Schaffer, Ashleigh E., Breuss, Martin W., Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y., Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S., Rosti, Rasim O., Copeland, Brett, Baek, Se

Journal:

Nature Genetics

Year:

2018

Language:

english

File:

PDF, 3.38 MB

english, 2018

90

Naturally bioactive compounds from Hemimycale aff arabica: antimicrobial, antiglycation, cytotoxicity, and molecular docking studies

Shaaban, Mohamed, Hassan, Amal Zaki, Soltan, Maha M., Abdelwahab, Ahmed B.

Journal:

Medicinal Chemistry Research

Year:

2018

Language:

english

File:

PDF, 957 KB

english, 2018

91

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J.

Journal:

Frontiers in Genetics

Year:

2017

Language:

english

File:

PDF, 900 KB

english, 2017

92

Therapeutic Effects of Allium sativum and Allium cepa in Schistosoma mansoni experimental infection

Mantawy, Mona Mohamed, Ali, Hanan Farouk, Rizk, Maha Zaki

Journal:

Revista do Instituto de Medicina Tropical de São Paulo

Year:

2011

Language:

english

File:

PDF, 2.82 MB

english, 2011

93

Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome

Guemez-Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha, Saleem, Sahar N., Musaev, Damir, McEvoy-Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennife

Journal:

Annals of Neurology

Year:

2018

Language:

english

File:

PDF, 1.24 MB

english, 2018

94

Experimental research Lung damage after long-term exposure of adult rats to sodium fluoride

Abdel-Gawad, Fayza Abdel-Raouf, Ashmawy, Maha Hussein, Zaki, Sherif Mohamed, Abdel-Fatah, Gaber Hassan

Journal:

Archives of Medical Science

Year:

2014

Language:

english

File:

PDF, 473 KB

english, 2014

95

Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies

Mohamed, Amal Mahmoud, Zaki, Maha S., Kamel, Alaa K., Issa, Mahmoud Y., Mekkawy, Mona, Safwat, Peter, Mazen, Inas

Journal:

Cytogenetic and Genome Research

Year:

2018

Language:

english

File:

PDF, 1.07 MB

english, 2018

96

Differences in Work Values by Gender and Generation: Evidence from Egypt

Dajani, Maha Ahmed Zaki

Journal:

International Journal of Business Administration

Year:

2018

Language:

english

File:

PDF, 434 KB

english, 2018

97

Potential value of serum progranulin as an activity biomarker in rheumatoid arthritis patients: Relation to musculoskeletal ultrasonographic evaluation

Fouad, Nermeen A., Nassr, Maha H., Fathi, Hanan M., Zaki, Othman M., Negm, Ahmed A., Senara, Soha H.

Journal:

The Egyptian Rheumatologist

Year:

2018

Language:

english

File:

PDF, 789 KB

english, 2018

98

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

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,

Journal:

The EMBO Journal

Year:

2018

Language:

english

File:

PDF, 1.85 MB

english, 2018

99

Immunohistochemical expression of oestrogen and progesterone receptors during experimental acute and chronic murine Schistosomiasis mansoni

Habib, Fawzia Ahmed, Zaki, Mayssa Mohamed, El-Aal, Amany Ahmed Abd, Safwat, Maha Dia Eldean, Domiaty, Magda Ahmed El

Journal:

Revista da Sociedade Brasileira de Medicina Tropical

Year:

2010

Language:

english

File:

PDF, 5.99 MB

english, 2010

100

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

Abdel-Hamid, Mohamed S., Ismail, Samira, Zaki, Maha S., Abdel-Salam, Ghada M. H., Otaify, Ghada A., Issa, Mahmoud Y., Abdel-Kader, Mohamed, Girgis, Marian, Aboul-Ezz, Eman, Mazen, Inas, Aglan, Mona S.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.11 MB

english, 2018