Is brachydactyly type Ballard a variant of brachydactyly type E?Kimberly Jensen; Joe J. Hoo · 2004

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral ProblemsStephen R. Williams; Micheala A. Aldred; Vazken M. Der Kaloustian; Fahed Halal; Gordon Gowans; D. Ross McLeod; Sara Zondag; Helga V. Toriello; R. Ellen Magenis; Sarah H. Elsea · 2010

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2Lehmann, Katarina; Seemann, Petra; Boergermann, Jan; Morin, Gilles; Reif, Silke; Knaus, Petra; Mundlos, Stefan · 2006

The “long-thumb” brachydactyly syndromeDavid W. Hollister; William G. Hollister · 1981

New syndrome: Exostoses, anetodermia, brachydactylyProf. F. Mollica; S. Li Volti; B. Guarneri · 1984

An unusual family with brachydactylyElias O. Silva · 2003

Brachydactyly—Familial occurrence in one familyM. G. Nadkarni; N. M. Nadkarni · 1964

Minor-brachydactyly. No. 2H. Drinkwater · 1914

Clinical and cytogenetic description of three patients with constitutional mosaic trisomy 8Ismail, 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. · Middle East Journal of Medical Genetics · 2017

Adams???Oliver syndrome: further evidence of an autosomal recessive variantTemtamy, Samia A.; Aglan, Mona S.; Ashour, Adel M.; Zaki, Maha S. · Clinical Dysmorphology · 2007

3-M syndrome: a report of three Egyptian cases with review of the literatureTemtamy, Samia A.; Aglan, Mona S.; Ashour, Adel M.; Ramzy, Magda I.; Hosny, Laila A.; Mostafa, Mostafa I. · Clinical Dysmorphology · 2006

Exome sequencing in the diagnosis of an atypical phenotype of infantile hyalinosisTemtamy, Samia A.; Aglan, Mona S.; Otaify, Ghada A.; Abdel-Hamid, Mohamed; Ismail, Somaia; Makrythanasis, Periklis; Hamamy, Hanan; Antonarakis, Stylianos E. · Middle East Journal of Medical Genetics · 2015

Phenotypic and molecular insights into <i>PQBP1</i> -related intellectual disabilityAbdel-Salam, Ghada M. H.; Miyake, Noriko; Abdel-Hamid, Mohamed S.; Sayed, Inas S. M.; Gadelhak, Mohamed I.; Ismail, Samira I.; Aglan, Mona S.; Afifi, Hanan H.; Temtamy, Samia A.; Matsumoto, Naomichi · American Journal of Medical Genetics Part A · 2018

Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian childIsmail, Samira; Fayez, Alaaeldin; Otaify, Ghada A.; Sayed, Inas; El Ruby, Mona O.; Aglan, Mona S.; Temtamy, Samia A. · Middle East Journal of Medical Genetics · 2017

<i>FAM46A</i> mutations are responsible for autosomal recessive osteogenesis imperfectaDoyard, 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, Pablo; Monnot, Sophie; Ruiz-Perez, Victor L; Cormier-Daire, Valérie · Journal of Medical Genetics · 2018