Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations
Abdel-Hamid, Mohamed S., Ismail, Manal F., Darwish, Hebatallh A., Effat, Laila K., Zaki, Maha S., Abdel-Salam, Ghada M. H.
Published in American journal of medical genetics. Part A (01.08.2016)
Published in American journal of medical genetics. Part A (01.08.2016)
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Journal Article
C242T polymorphism of NADPH oxidase p22phox gene reduces the risk of coronary artery disease in a random sample of Egyptian population
Hashad, Ingy M, Abdel Rahman, Mohamed F, Abdel-Maksoud, Sahar M, Amr, Khalda S, Effat, Laila K, Shaban, Gamal M, Gad, Mohamed Z
Published in Molecular biology reports (2014)
Published in Molecular biology reports (2014)
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Journal Article
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
Abdel‐Hamid, Mohamed S., Abdel‐Ghafar, Sherif F., Ismail, Suzan R., Desouky, Lubna M., Issa, Mahmoud Y., Effat, Laila K., Zaki, Maha S.
Published in Clinical genetics (01.11.2020)
Published in Clinical genetics (01.11.2020)
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Journal Article
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features
Ahmed, Rania R., Medhat, Amina M., Hamdy, Germine M., Effat, Laila K.E., Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M.H.
Published in Molecular syndromology (01.08.2023)
Published in Molecular syndromology (01.08.2023)
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Journal Article
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
Abdel‐Salam, Ghada M. H., Sayed, Inas S. M., Afifi, Hanan H., Abdel‐Ghafar, Sherif F., Abouzaid, Maha R., Ismail, Samira I., Aglan, Mona S., Issa, Mahmoud Y., EL‐Bassyouni, Hala T., El‐Kamah, Ghada, Effat, Laila K., Eid, Maha, Zaki, Maha S., Temtamy, Samia A., Abdel‐Hamid, Mohamed S.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Journal Article
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
Abdel‐Salam, Ghada M.H., Miyake, Noriko, Eid, Maha M., Abdel‐Hamid, Mohamed S., Hassan, Nihal A., Eid, Ola M., Effat, Laila K., El‐Badry, Tarek H., El‐Kamah, Ghada Y., El‐Darouti, Mohamed, Matsumoto, Naomichi
Published in American journal of medical genetics. Part A (01.11.2011)
Published in American journal of medical genetics. Part A (01.11.2011)
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Journal Article
Preparation and evaluation of a novel therapeutic dairy-based drink for phenylketonuria
Abdel-Salam, Ahmed M, Effat, Laila K
Published in North American journal of medical sciences (01.02.2010)
Published in North American journal of medical sciences (01.02.2010)
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Journal Article
Relationship between Biochemical Bone Markers and Bone Mineral Density in Patients with Phenylketonuria under Restricted Diet
Koura, Hala M, Zaki, Sherif M, Ismail, Nagwa A, Salama, Emad E, El Lebedy, Dalia H, Effat, Laila K
Published in Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics (01.02.2014)
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Published in Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics (01.02.2014)
Journal Article
Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome
Abdel-Salam, Ghada M.H., Abdel-Hamid, Mohamed S., Saleem, Sahar N., Ahmed, Mahmoud K.H., Issa, Mahmoud, Effat, Laila K., Kayed, Hisham F., Zaki, Maha S., Gaber, Khaled R.
Published in American journal of medical genetics. Part A (01.08.2012)
Published in American journal of medical genetics. Part A (01.08.2012)
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Journal Article
Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation
Aglan, Mona S., Abdel-Hamid, Mohamed S., Otaify, Ghada A., Ismail, Somaia M., Effat, Laila K., Temtamy, Samia A.
Published in Middle East Journal of Medical Genetics (01.01.2015)
Published in Middle East Journal of Medical Genetics (01.01.2015)
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Journal Article
Molecular diagnosis of myotonic dystrophy type 1 in Egyptian patients
Effat, Laila K., Abdalla, Hoda, Ismail, Somia, El-Hadidi, Iman, Helmi, Dalia, Fahmi, Nagia, Afifi, Hanan H.
Published in Middle East Journal of Medical Genetics (01.07.2013)
Published in Middle East Journal of Medical Genetics (01.07.2013)
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Journal Article
Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy
Al-Ettribi, Ghada M.M., Effat, Laila K., El-Bassyouni, Hala T., Zaki, Maha S., Shanab, Gamila, Karim, Amr M.
Published in The Egyptian journal of medical human genetics (01.01.2013)
Published in The Egyptian journal of medical human genetics (01.01.2013)
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Journal Article
Profound Microcephaly, Primordial Dwarfism with evelopmental Brain malformations: A New Syndrome
ABDEL-SALAM, Ghada M. H, ABDEL-HAMID, Mohamed S, SALEEM, Sahar N, AHMED, Mahmoud K. H, ISSA, Mahmoud, EFFAT, Laila K, KAYED, Hisham F, ZAKI, Maha S, GABER, Khaled R
Published in American journal of medical genetics. Part A (2012)
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Published in American journal of medical genetics. Part A (2012)
Journal Article
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.
Published in Middle East Journal of Medical Genetics (01.01.2013)
Published in Middle East Journal of Medical Genetics (01.01.2013)
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Journal Article
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
Abdel-Salam, Ghada M.H., Miyake, Noriko, Eid, Maha M., Abdel-Hamid, Mohamed S., Hassan, Nihal A., Eid, Ola M., Effat, Laila K., El-Badry, Tarek H., El-Kamah, Ghada Y., El-Darouti, Mohamed, Matsumoto, Naomichi
Published in American Journal of Medical Genetics Part A (01.11.2011)
Published in American Journal of Medical Genetics Part A (01.11.2011)
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