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Results: 1-17 |
Results: 17
Micromelic dwarfism - humerus, femur and tibia type
Authors: Al-Gazali, LI Bakir, M Hamid, Z Nath, D Haas, D
Citation: Li. Al-gazali et al., Micromelic dwarfism - humerus, femur and tibia type, CLIN DYSMOR, 10(1), 2001, pp. 25-28
Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect
Authors: Al-Gazali, LI Padmanabhan, R Melnyk, S Yi, P Pogribny, IP Pogribna, M Bakir, M Hamid, ZA Abdulrazzaq, Y Dawodu, A James, SJ
Citation: Li. Al-gazali et al., Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect, AM J MED G, 103(2), 2001, pp. 128-132
Gerodermia osteodysplastica and wrinkly skin syndrome: Are they the same?
Authors: Al-Gazali, LI Sztriha, L Skaff, F Haas, D
Citation: Li. Al-gazali et al., Gerodermia osteodysplastica and wrinkly skin syndrome: Are they the same?, AM J MED G, 101(3), 2001, pp. 213-220
Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26
Authors: Bayoumi, R Saar, K Lee, YA Nurnberg, G Reis, A Nur-E-Kamal, M Al-Gazali, LI
Citation: R. Bayoumi et al., Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26, J MED GENET, 38(6), 2001, pp. 369-373
A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31
Authors: Pulleyn, LJ Jackson, AP Roberts, E Carridice, A Muxworthy, C Houseman, M Al-Gazali, LI Lench, NJ Markham, AF Mueller, RF
Citation: Lj. Pulleyn et al., A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31, EUR J HUM G, 8(12), 2000, pp. 991-993
A new syndrome of optic nerve colobomas and renal abnormalities associatedwith arthrogryposis multiplex
Authors: Al-Gazali, LI Bakir, M Hamid, ZM Nair, DK Haas, D Amirlak, I Rushdi, A
Citation: Li. Al-gazali et al., A new syndrome of optic nerve colobomas and renal abnormalities associatedwith arthrogryposis multiplex, CLIN DYSMOR, 9(3), 2000, pp. 183-188
Congenital bowing of the long bones associated with camptodactyly, talipesequinovarus and agenesis of the corpus callosum
Authors: Al-Gazali, LI Bakir, M Hamid, ZM Nath, R Haas, D
Citation: Li. Al-gazali et al., Congenital bowing of the long bones associated with camptodactyly, talipesequinovarus and agenesis of the corpus callosum, CLIN DYSMOR, 9(2), 2000, pp. 93-97
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)
Authors: Sztriha, L Al-Gazali, LI Wanders, RJA Ofman, R Nork, M Lestringant, GG
Citation: L. Sztriha et al., Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency), DEVELOP MED, 42(7), 2000, pp. 492-495
Recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family
Authors: Al-Gazali, LI Bakir, M Dawodu, A Nath, R Al-Tatari, HM Gerami, M
Citation: Li. Al-gazali et al., Recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family, CLIN DYSMOR, 8(4), 1999, pp. 253-258
Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome
Authors: Al-Gazali, LI Bakir, M Sadaghatian, MR Nath, R Haas, D
Citation: Li. Al-gazali et al., Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome, CLIN DYSMOR, 8(2), 1999, pp. 87-92
Hypocalvaria associated with intrauterine growth retardation, facial dysmorphism, congenital heart disease and camptomelia
Authors: Al-Gazali, LI Bakalinova, D Aziz, S Anwer, O Shather, W Sztriha, L
Citation: Li. Al-gazali et al., Hypocalvaria associated with intrauterine growth retardation, facial dysmorphism, congenital heart disease and camptomelia, CLIN DYSMOR, 8(2), 1999, pp. 129-134
Recurrence of fibrochondrogenesis in a consanguineous family
Authors: Al-Gazali, LI Bakir, M Dawodu, A Haas, D
Citation: Li. Al-gazali et al., Recurrence of fibrochondrogenesis in a consanguineous family, CLIN DYSMOR, 8(1), 1999, pp. 59-61
Joubert's syndrome: New cases and review of clinicopathologic correlation
Authors: Sztriha, L Al-Gazali, LI Aithala, GR Nork, M
Citation: L. Sztriha et al., Joubert's syndrome: New cases and review of clinicopathologic correlation, PED NEUROL, 20(4), 1999, pp. 274-281
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis
Authors: Sztriha, L Al-Gazali, LI Varady, E Goebel, HH Nork, M
Citation: L. Sztriha et al., Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis, NEUROPEDIAT, 30(3), 1999, pp. 141-145
School mental health screening: A model for developing countries
Authors: Eapen, V Al-Gazali, LI Bin-Othman, S Abou-Saleh, MT El-Nasser, KA Ramzy, R Selwans, SB Skaik, MB Awad, F El-Faki, MM El-Habish, HA Hafez, KM Ibrahim, FM Todary, S Yaghi, OY
Citation: V. Eapen et al., School mental health screening: A model for developing countries, J TROP PEDI, 45(1), 1999, pp. 53-55
Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes
Authors: Al-Gazali, LI Sztriha, L Dawodu, A Varady, E Bakir, M Khdir, A Johansen, J
Citation: Li. Al-gazali et al., Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes, J MED GENET, 36(6), 1999, pp. 461-466
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
Authors: Al-Gazali, LI Sztriha, L Punnose, J Shather, W Nork, M
Citation: Li. Al-gazali et al., Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?, J MED GENET, 36(2), 1999, pp. 161-166
Risultati: 1-17 |