Frequency of occurrence of specific reading disorder and associated psychiatric comorbidity in a sample of Egyptian primary school students von El Sheikh, Mona M., El Missiry, Marwa A., Hatata, Hisham A., Sabry, Walaa M., El Fiky, Abdul Aala A., Essawi, Heba I.

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Cognitive functions among euthymic bipolar I patients after a single manic episode versus recurrent episodes von Elshahawi, Heba H, Essawi, Heba, Rabie, Menan A, Mansour, Mona, Beshry, Zeinab A, Mansour, Ahmed N

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WT1 Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature von Mazen, Inas, Hassan, Heba, Kamel, Alaa, Mekkawy, Mona, McElreavey, Ken, Essawi, Mona

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Genome-editing technologies: Advancement, clinical applications, and ethical concerns von Sharaf-Eldin, Wessam, Hassan, Heba, El-Bagoury, Nagham, Essawi, Mona

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Variants in the NPC1 Gene in Egyptian Patients with Niemann-Pick Type C von Essawi, Mona L., Abdel-aleem, Asmaa F., Badawy, Mohamed A., Zaki, Maha S., Mohamed, Magda F., Hassan, Heba A., Fateen, Ekram M.

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FDA Labeling Status of Pediatric Medications von Yoon, Esther Y., Davis, Matthew M., El-Essawi, Heba, Cabana, Michael D.

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Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients von Hassan, Heba Amin, Zaki, Maha Saad, Issa, Mahmoud Yousry, El-Bagoury, Nagham Maher, Essawi, Mona Lotfi

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SMA carrier testing using Real-time PCR as a potential preconception screening tool von Eissa, Noura Raafat, Hassan, Heba Amin, Senousy, Sameh Mohamed, Soliman, Hala Nasr, Essawi, Mona Lotfy

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Case report: Homozygous PRRT2 mutation in ICCA Egyptian family with reduced penetrance von Kishk, Nirmeen A., Sharaf-Eldin, Wessam E., Saher, Heba, Essawi, Mona

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

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Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II von Hassan, Heba Amin, Mazen, Inas, Elaidy, Aya, Kamel, Alaa K, Eissa, Noura R., Essawi, Mona L.

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MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients von Hassan, Heba A, Fahmy, Nagia A, El-Bagoury, Nagham M, Eissa, Noura R, Sharaf-Eldin, Wessam E, Issa, Mahmoud Y, Zaki, Maha S

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Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I von Hassan, Heba Amin, Essawi, M. L., Mekkawy, M. K., Mazen, I.

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Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development von Mazen, Inas, Mekkawy, Mona, Kamel, Alaa, Essawi, Mona, Hassan, Heba, Abdel‐Hamid, Mohamed, Amr, Khalda, Soliman, Hala, El‐Ruby, Mona, Torky, Ahmed, El Gammal, Mona, Elaidy, Aya, Bashamboo, Anu, McElreavey, Kenneth

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Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene von Essawi, Mona L, Fateen, Ekram M, Atia, Hanan A, Eissa, Noura R, Aboul-Ezz, Eman H, Ibrahim, Mona M, Hassan, Heba A

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Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients von Engeli, Roger T., Tsachaki, Maria, Hassan, Heba A., Sager, Christoph P., Essawi, Mona L., Gad, Yehia Z., Kamel, Alaa K., Mazen, Inas, Odermatt, Alex

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First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations von Thomas, Manal M., Ashaat, Engy A., Otaify, Ghada A., Ismail, Samira, Essawi, Mona L., Abdel-Hamid, Mohamed S., Hassan, Heba A., Alsaiedi, Sonia A., Aglan, Mona, El Ruby, Mona O., Temtamy, Samia

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Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants von Hassan, Heba Amin, Essawi, Mona L., Esmail, Asmaa M., Eissa, Noura R., Aglan, Mona S., Temtamy, Samia A.

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Circulating miRNAs 21 and 221 as biomarkers for early diagnosis of prostate cancer von Kotb, Sameh, Mosharafa, Ashraf, Essawi, Mona, Hassan, Heba, Meshref, Alaa, Morsy, Ahmed

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Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants von Eissa, Noura, Essawi, Mona, Abdel-Salam, Ghada, Hassan, Heba, Fateen, Ekram, Temtamy, Samia

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