A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia von Abdel-Salam, Ghada M H, Girgis, Marian, Eid, Maha M, Sayed, Inas S M, Abdel-Hamid, Mohamed S

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MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience von Eid, Ola M, Eid, Maha M, Farid, Marwa, Abdel Kader, Rania M. A, Mahrous, Rana, El-Dessouky, Sara H

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Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder von Abdelrahman, Amany H, Eid, Ola M, Ibrahim, Mona H, Abd El-Fattah, Safa N, Eid, Maha M, Meguid, Nagwa A

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Evaluation of MLPA as a comprehensive molecular cytogenetic tool to detect cytogenetic markers of chronic lymphocytic leukemia in Egyptian patients von Eid, Ola M, Abdel Kader, Rania M. A, Fathalla, Lamiaa A, Abdelrahman, Amany H, Rabea, Ahmed, Mahrous, Rana, Eid, Maha M

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Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly von Mohamed, Amal M., Kamel, Alaa K., Eid, Maha M., Eid, Ola M., Mekkawy, Mona, Hussein, Shymaa H., Zaki, Maha S., Esmail, Samira, Afifi, Hanan H., El‐Kamah, Ghada Y., Otaify, Ghada A., El‐Awady, Heba Ahmed, Elaidy, Aya, Essa, Mahmoud Y., El‐Ruby, Mona, Ashaat, Engy A., Hammad, Saida A., Mazen, Inas, Abdel‐Salam, Ghada M. H., Aglan, Mona, Temtamy, Samia

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Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature von Eid, Ola M, Eid, Maha M, Abdelrahman, Amany H, Abdel kader, Rania M. A, Farid, Marwa, Mahrous, Rana, Mekkawy, Mona K

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Telomerase reverse transcriptase gene amplification in hematological malignancies von Abdelrahman, Amany H, Eid, Maha M, Hassan, Mirhane, Eid, Ola M, AbdelKader, Rania M. A, AlAzhary, Nevin M, Shahin, Rasha Y

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Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features von Zaki, Maha S., Eid, Ola M., Eid, Maha M., Mohamed, Amal M., Sayed, Inas S.M., Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M.H.

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Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation von Mohamed, Amal M., Eid, Maha M., Eid, Ola M., Hussein, Shymaa H., Mossaad, Aida M., Abdelfattah, Usama, Sharafuddin, Mohab A., El Halafawy, Yasser M., Elbanoby, Tarek M., Abdel-Salam, Ghada M.H.

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Response to letter from Okoye JO and Ngokere AA “Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?” von Abdel‐Salam, Ghada M. H., El‐Dessouky, Sara H., Aboulghar, Mona M., Eid, Maha M.

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A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis von Mazen, Inas, McElreavey, Kenneth, Eid, Maha M., Bashamboo, Anu, Kamah, Ghada

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Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations von El‐Dessouky, Sara H., Aboulghar, Mona M., Gaafar, Hassan M., Abdella, Rana M., Sharaf, Marwa F., Ateya, Mohamed I., Elarab, Ahmed Ezz, Zidan, Walaa H., Helal, Rania M., Aboelsaud, Samah M., Eid, Maha M., Abdel‐Salam, Ghada M.H.

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Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients von Sokkar, Mona F, Hamdy, Mona, Erian, Peter SF, Mosaad, Rehab M, Elaraby, Nesma M, Taher, Mohamed B, El-Sayed, Heba

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Detection of low-grade mosaicism and its correlation with hormonal profile, testicular volume, and semen quality in a cohort of Egyptian Klinefelter and Klinefelter-like patients von Madian, Abdelrahman, Eid, Maha M., Shahin, Adel A.B., Mazen, Inas, El-Bassyouni, Hala T., Eid, Ola M.

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Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility von Eid, Maha M., Eid, Ola M., Abdelrahman, Amany H., Abdelrahman, Islam F.S., Aboelkomsan, Elshaimaa A.F., AbdelKader, Rania M.A., Hassan, Mirhane, Farid, Marwa, Ibrahim, Alshaymaa A., Abd El-Fattah, Safa N., Mahrous, Rana

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Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients von Eid, Maha M., Eid, Ola M., Abdel-Hadi, Sawsan, Hassib, Nehal, Madian, Abdelrahman, Afifi, Hanan H., Abdel-Salam, Ghada M. H.

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Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome von Miyake, Noriko, Abdel-Salam, Ghada, Yamagata, Takanori, Eid, Maha M., Osaka, Hitoshi, Okamoto, Nobuhiko, Mohamed, Amal M., Ikeda, Takahiro, Afifi, Hanan H., Piard, Juliette, van Maldergem, Lionel, Mizuguchi, Takeshi, Miyatake, Satoko, Tsurusaki, Yoshinori, Matsumoto, Naomichi

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Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2 von El‐Ruby, Mona, El‐Din Fayez, Alaa, El‐Dessouky, Sara H., Aglan, Mona S., Mazen, Inas, Ismail, Nora, Afifi, Hanan H., Eid, Maha M., Mostafa, Mostafa I., Mehrez, Mennat I., Khalil, Yasmin, Zaki, Maha S., Gaber, Khaled R., Abdel‐Hamid, Mohamed S., Abdel‐Salam, Ghada M. H.

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De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder von Afifi, Hanan H., Abdel‐Hamid, Mohamed S., Eid, Maha M., Mostafa, Inas S., Abdel‐Salam, Ghada M.H.

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Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients von Eid, Maha M., Eid, Ola M., Abdel-Hadi, Sawsan, Hassib, Nehal, Madian, Abdelrahman, Afifi, Hanan H., Abdel-Salam, Ghada M.H.

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