1. A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly. Issue 8 (28th June 2014) Authors: Makrythanasis, Periklis; Temtamy, Samia; Aglan, Mona S.; Otaify, Ghada A.; Hamamy, Hanan; Antonarakis, Stylianos E. Journal: Human mutation Issue: Volume 35:Issue 8(2014:Aug.) Page Start: 959 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. Issue 12 (19th September 2020) Authors: Zaki, Maha S.; Otaify, Ghada A.; Ismail, Samira; Issa, Mahmoud Y.; El‐Ruby, Mona O.; Sadek, Abdelrahim A.; Ashaat, Engy A.; El Saeidi, Sonia A.; Aglan, Mona S.; Temtamy, Samia; Abdel‐Hamid, Mohamed S. Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 2857 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly. Issue 11 (5th October 2021) Authors: 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;... Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 11(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations. Issue 6 (23rd April 2013) Authors: Caparrós‐Martin, José A.; Valencia, María; Pulido, Veronica; Martínez‐Glez, Victor; Rueda‐Arenas, Inmaculada; Amr, Khalda; Farra, Chantal; Lapunzina, Pablo; Ruiz‐Perez, Victor L.; Temtamy, Samia; Aglan, Mona Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cytogenetics abnormalities in a referred population for chromosomal analysis and the role of fluorescence in-situ hybridization in refining the diagnosis. Issue 1 (January 2017) Authors: Mohamed, Amal M.; Kamel, Alaa K.; Helmy, Nivine A.; Hammad, Saida; Kayed, Hesham F.; Shihab, Marwa; El-Gerzawy, Assad; Eid, Maha M.; Eid, Ola M.; Mekkawy, Mona K.; Mahmoud, Wael; Mazen, Inas; El-Ruby, Mona; Afifi, Hanan; Zaki, Maha; Salam, Ghada A.; Aglan, Mona; Temtamy, Samia Journal: Middle East journal of medical genetics Issue: Volume 6:Issue 1(2017:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families. Issue 10 (18th August 2014) Authors: Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico A.; Guipponi, Michel; Vannier, Anne; Béna, Frédérique; Gimelli, Stefania; Stathaki, Elisavet; Temtamy, Samia; Mégarbané, André; Masri, Amira; Aglan, Mona S.; Zaki, Maha S.; Bottani, Armand; Fokstuen, Siv; Gwanmesia, Lorraine; Aliferis, Konst... Journal: Human mutation Issue: Volume 35:Issue 10(2014:Oct.) Page Start: 1203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Expanding the phenome and variome of skeletal dysplasia. (December 2018) Authors: Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan; Anazi, Shams; Ewida, Nour; Alsaif, Hessa; Mohamed, Jawahir; Alazami, Anas; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari... Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. Issue 4 (22nd January 2018) Authors: Doyard, Mathilde; Bacrot, Séverine; Huber, Céline; Di Rocco, Maja; Goldenberg, Alice; Aglan, Mona S; Brunelle, Perrine; Temtamy, Samia; Michot, Caroline; Otaify, Ghada A; Haudry, Coralie; Castanet, Mireille; Leroux, Julien; Bonnefont, Jean-Paul; Munnich, Arnold; Baujat, Geneviève; Lapunzina, Pabl... Journal: Journal of medical genetics Issue: Volume 55:Issue 4(2018) Page Start: 278 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Issue 1 (6th November 2019) Authors: Palencia‐Campos, Adrián; Martínez‐Fernández, María‐Luisa; Altunoglu, Umut; Soto‐Bielicka, Patricia; Torres, Antonio; Marín, Purificación; Aller, Elena; Şentürk, Leyli; Berköz, Ömer; Yıldıran, Mehmet; Kayserili, Hülya; Gil‐Camarero, Elena; Colli‐Lista, Gloria; Sanchís‐Calvo, Amparo; Carretero, Alb... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. Issue 3 (27th January 2017) Authors: Tenorio, Jair; Álvarez, Ignacio; Riancho‐Zarrabeitia, Leyre; Martos‐Moreno, Gabriel Á.; Mandrile, Giorgia; de la Flor Crespo, Monserrat; Sukchev, Mikhail; Sherif, Mostafa; Kramer, Iza; Darnaude‐Ortiz, María T.; Arias, Pedro; Gordo, Gema; Dapía, Irene; Martinez‐Villanueva, Julián; Gómez, Rubén; It... Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 601 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗