Zobrazeno 1 - 10 of 10 pro vyhledávání: '"M. Y. El Khalifa"'
1
Disease profile of 400 institutionalized mentally retarded patients in Kuwait
Autor: R. A. Wahba, S. Al‐Hijji, Talaat I. Farag, E. A. Qurban, Lulwa A Aljeryan, Makia J. Marafie, B. Kasrawi, G. Yadav, I S al-Sulaiman, S. A. Al-Awadi, N. Al‐Hashash, M. Y. El-Khalifa, H. Al‐Aboud, F. M. Mohammed, D. S. Krishna Murthy, M. A. Redha, S. Abul Hassan, Laila Bastaki, M. H. El‐Badramary, A. A. Redha, M. A. Aref, H. Al‐Khorafi, D. Al‐Dighashem
Publikováno v: Clinical Genetics. 44:329-334
Farag TI, Al-Awadi SA, El-Badramary MH, Aref MA, Kasrawi B, Krishna Murthy DS, El-Khalifa MY, Yadav G, Marafie MJ, Bastaki L, Wahba RA, Mohammed FM, Abul Hasan S, Redha AA, Redha MA, Al-aboud H, Al-Hijji S, Al-Dighashem D, Al-Hashash N, Al-Jeeryan L,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d528176dfb6bc2ec83d424ed6bc4b788
https://doi.org/10.1111/j.1399-0004.1993.tb03910.x
Zobrazit plný text záznamu
2
Consanguinity among the Kuwaiti population
Autor: M. Y. El-Khalifa, K. K. Naguib, Ahmad S. Teebi, Talaat I. Farag, el-Dossary L, Mohamed A.A. Moussa, S. A. Al-Awadi
Publikováno v: Clinical Genetics. 27:483-486
A total of 5,007 Kuwaitis were ascertained to study the incidence of consanguineous marriages during 1983. The rate of consanguineous mating was found to be 54.3% with estimated population incidence rates 52.9 to 55.7%. First cousin marriages were th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27115fbe84270e5330fa955f241ec9c7
https://doi.org/10.1111/j.1399-0004.1985.tb00236.x
Zobrazit plný text záznamu
4
Human homologue for the mouse mutant disorganisation: does it exist?
Autor: E S Khalil, M S Hamoud, K.K. Naguib, M Y el-Khalifa
Publikováno v: Journal of Medical Genetics. 28:138-139
We describe a newborn Arab male with defects similar to those seen in mice heterozygous for the mutant disorganisation (DS) gene. He had complete absence of the left lower limb including the left pelvic bone, hamartomas arising from the abdominal wal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e90c61f221611112723d5897290c000a
https://doi.org/10.1136/jmg.28.2.138
Zobrazit plný text záznamu
6
Spondyloepiphyseal dysplasia tarda with progressive arthropathy
Autor: M. Y. El-Khalifa, M Zahran, Sadika A. Al-Awadi, Talaat I. Farag, A G Al-Ansari, K Naguib, A Cuschieri, G Hosny
Publikováno v: Journal of Medical Genetics. 21:193-196
We present a family with numerous first cousin marriages and several members affected with spondyloepiphyseal dysplasia tarda with progressive arthropathy causing severe crippling and deformity. The extensive pedigree provides strong evidence for aut
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbd02ab7d785cc3f4b52190c186487e2
https://doi.org/10.1136/jmg.21.3.193
Zobrazit plný text záznamu
7
Primary hypogonadism and partial alopecia in three sibs with Müllerian hypoplasia in the affected females
Autor: S. A. Al-Awadi, T. I. Farag, A. S. Teebi, K. Naguib, M. Y. El-Khalifa, Y. Kelani, A. Al-Ansari, R. N. Schimke, John M. Opitz, James F. Reynolds
Publikováno v: American Journal of Medical Genetics. 22:619-622
We describe 3 sibs, two females and a male, with hypogonadism, defective Müllerian development in the sisters, and partial alopecia consisting of cranial hair only in the center of the scalp. One sister had absent gonads, the other had streak ovarie
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fff2272ccadf7ae206363e98f7ecc12f
https://doi.org/10.1002/ajmg.1320220322
Zobrazit plný text záznamu
8
Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)]
Autor: S. A. Al-Awadi, T. I. Farag, R. Usha, M. Y. El-Khalifa, T. S. Sundareshan, S. A. Al-Othman, John M. Opitz, James F. Reynolds
Publikováno v: American journal of medical genetics. 23(4)
A severely malformed girl died 7 days after birth and was found to have de novo interstitial deletion of 1q (1q32----1q42). Clinical abnormalities included microcephaly, encephalocele, small eyes with unilateral esotropia, hypertelorism but small pro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5090eafab869680d7235db44d431662
https://pubmed.ncbi.nlm.nih.gov/3963055
Zobrazit plný text záznamu
9
Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome
Autor: M. Y. El-Khalifa, Ahmad S. Teebi, Talaat I. Farag, K Naguib, Sadika A. Al-Awadi
Publikováno v: Journal of medical genetics. 22(1)
A newly recognised profound limb deficiency malformation syndrome in two Arab sibs of different sexes with consanguineous parents is described. Additional features, which include thoracic dystrophy, unusual facies, and normal intelligence, are consis
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f847b5613d6464abaf4919cfbadcd0f7
https://pubmed.ncbi.nlm.nih.gov/3981578
Zobrazit plný text záznamu
10
Familial uterine hernia syndrome: Report of an Arab family with four affected males
Autor: M Y el-Khalifa, Talaat I. Farag, Sadika A. Al-Awadi, El-Sayed H. Mahfouz, Ahmad S. Teebi, K.K. Naguib
Publikováno v: American Journal of Medical Genetics. 33:180-181
We report an Arab Bedouin family including four males with uterine hernia syndrome. All had a male chromosome constitution and phenotype, inguinal herniae, cryptochidism, and persistence of Müllerian derivatives. Histopathological studies confirmed
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9426224de96976f0f8a70a425bc25999
https://doi.org/10.1002/ajmg.1320330208
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje