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Results: 1-25 | 26-30
Results: 1-25/30
THE AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME OF MICROCEPHALY, INTRACRANIAL CALCIFICATION, AND CNS DISEASE - REPORT OF ANOTHER BEDOUIN FAMILY
Authors: ALDABBOUS R SABRY MA FARAH S ALAWADI SA SIMEONOV S FARAG TI
Citation: R. Aldabbous et al., THE AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME OF MICROCEPHALY, INTRACRANIAL CALCIFICATION, AND CNS DISEASE - REPORT OF ANOTHER BEDOUIN FAMILY, Clinical dysmorphology, 7(2), 1998, pp. 127-130
CUTIS-VERTICIS-GYRATA-MENTAL-DEFICIENCY-SYNDROME - REPORT OF A CASE WITH UNUSUAL NEURORADIOLOGICAL FINDINGS
Authors: FARAH S FARAG T SABRY MA SIMEONOV ST ALKHATTAM S ABULHASSAN SJ QUASRAWI B ALBUSAIRI W ALAWADI SA
Citation: S. Farah et al., CUTIS-VERTICIS-GYRATA-MENTAL-DEFICIENCY-SYNDROME - REPORT OF A CASE WITH UNUSUAL NEURORADIOLOGICAL FINDINGS, Clinical dysmorphology, 7(2), 1998, pp. 131-134
BRIEF CLINICAL REPORT - CRANIOFACIAL DYSSYNOSTOSIS WITH CRYPTORCHIDISM AND NORMAL STATURE
Authors: ALTORKI NA SABRY MA ALTAWARI A ALKANDARI NH ALAWADI SA
Citation: Na. Altorki et al., BRIEF CLINICAL REPORT - CRANIOFACIAL DYSSYNOSTOSIS WITH CRYPTORCHIDISM AND NORMAL STATURE, American journal of medical genetics, 79(1), 1998, pp. 5-7
TRIOPHTHALMIA AND FACIAL CLEFTING - A CASE-REPORT
Authors: TAYEL SM SABRY MA ABDELKADER N FARAH S ALAWADI SA FARAG TI
Citation: Sm. Tayel et al., TRIOPHTHALMIA AND FACIAL CLEFTING - A CASE-REPORT, Journal of Medical Genetics, 35(10), 1998, pp. 875-877
KENNY-CAFFEY-SYNDROME IS PART OF THE CATCH-22 HAPLOINSUFFICIENCY CLUSTER
Authors: SABRY MA ZAKI M HASSAN SJA RAMADAN DG RASOOL MAA ALAWADI SA ALSALEH Q
Citation: Ma. Sabry et al., KENNY-CAFFEY-SYNDROME IS PART OF THE CATCH-22 HAPLOINSUFFICIENCY CLUSTER, Journal of Medical Genetics, 35(1), 1998, pp. 31-36
NONHEMATOLOGICAL TRAITS ASSOCIATED WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-1 - A NEW ENTITY EMERGING
Authors: SABRY MA ZAKI M ALAWADI SA ALSALEH Q MATTAR MS
Citation: Ma. Sabry et al., NONHEMATOLOGICAL TRAITS ASSOCIATED WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-1 - A NEW ENTITY EMERGING, Clinical dysmorphology, 6(3), 1997, pp. 205-212
GERODERMIA OSTEODYSPLASTICA IN A BEDOUIN SIBSHIP - FURTHER DELINEATION OF THE SYNDROME
Authors: ALTORKI NA ALAWADI SA CINDROHEBERIE L SABRY MA
Citation: Na. Altorki et al., GERODERMIA OSTEODYSPLASTICA IN A BEDOUIN SIBSHIP - FURTHER DELINEATION OF THE SYNDROME, Clinical dysmorphology, 6(1), 1997, pp. 51-55
CYTOGENETIC PROFILE OF DOWN-SYNDROME IN KUWAIT
Authors: ALAWADI SA MURTHY DSK FARAG TI
Citation: Sa. Alawadi et al., CYTOGENETIC PROFILE OF DOWN-SYNDROME IN KUWAIT, Cytogenetics and cell genetics, 77, 1997, pp. 7-7
LOWRY-MACLEAN-SYNDROME WITH OSTEOPENIC BONES AND POSSIBLE AUTOSOMAL-DOMINANT INHERITANCE IN A BEDOUIN FAMILY
Authors: ALTORKI NA SABRY MA ALAWADI SA ALTARKEIT N
Citation: Na. Altorki et al., LOWRY-MACLEAN-SYNDROME WITH OSTEOPENIC BONES AND POSSIBLE AUTOSOMAL-DOMINANT INHERITANCE IN A BEDOUIN FAMILY, American journal of medical genetics, 73(4), 1997, pp. 491-492
KENNY-CAFFEY-SYNDROME IN 6 BEDOUIN SIBSHIPS - AUTOSOMAL RECESSIVE INHERITANCE IS CONFIRMED
Authors: KHAN KTS UMA R USHA R ALGHANEM MM ALAWADI SA FARAG TI
Citation: Kts. Khan et al., KENNY-CAFFEY-SYNDROME IN 6 BEDOUIN SIBSHIPS - AUTOSOMAL RECESSIVE INHERITANCE IS CONFIRMED, American journal of medical genetics, 69(2), 1997, pp. 126-132
ANOTHER ARAB PATIENT WITH OVERLAP OF VARADI-PAPP OPITZ TRIGONOCEPHALYSYNDROMES/
Authors: SABRY MA ALSALEH Q FARAH S OBENBERGEROVA D SIMEONOV S ALAWADI SA FARAG TI
Citation: Ma. Sabry et al., ANOTHER ARAB PATIENT WITH OVERLAP OF VARADI-PAPP OPITZ TRIGONOCEPHALYSYNDROMES/, American journal of medical genetics, 68(1), 1997, pp. 54-57
UNUSUAL TRAITS ASSOCIATED WITH ROBINOW-SYNDROME
Authors: SABRY MA ISMAIL EAR ALNAGGAR RL ALTORKI NA FARAH S ALAWADI SA OBENBERGEROVA D BASTAKI L
Citation: Ma. Sabry et al., UNUSUAL TRAITS ASSOCIATED WITH ROBINOW-SYNDROME, Journal of Medical Genetics, 34(9), 1997, pp. 736-740
MOLECULAR CYTOGENETIC ANALYSIS OF DUPLICATION OF X-CHROMOSOME [DE-NOVO 47,XY,-Q28)] IN A MALE WITH HYPOGONADISM AND PSYCHOMOTOR RETARDATION(DUP(X)(Q13)
Authors: MURTHY SK MURTHY DSK BASTAKI L ALNASSER KE VERGHEESE L ALAWADI SA
Citation: Sk. Murthy et al., MOLECULAR CYTOGENETIC ANALYSIS OF DUPLICATION OF X-CHROMOSOME [DE-NOVO 47,XY,-Q28)] IN A MALE WITH HYPOGONADISM AND PSYCHOMOTOR RETARDATION(DUP(X)(Q13), American journal of human genetics, 61(4), 1997, pp. 769-769
DE-NOVO DUPLICATION AND DYNAMIC MOSAICISM OF CHROMOSOME 22(Q11-GREATER-THAN-Q12), AND STRUCTURAL REARRANGEMENT (TRANSLOCATION-5, TRANSLOCATION-7, TRANSLOCATION14) IN THE FATHER - A CASE-REPORT
Authors: ABULHASAN SJ MURTHY DSK RASOOL MA NAGUIB KK ALAWADI SA
Citation: Sj. Abulhasan et al., DE-NOVO DUPLICATION AND DYNAMIC MOSAICISM OF CHROMOSOME 22(Q11-GREATER-THAN-Q12), AND STRUCTURAL REARRANGEMENT (TRANSLOCATION-5, TRANSLOCATION-7, TRANSLOCATION14) IN THE FATHER - A CASE-REPORT, American journal of human genetics, 61(4), 1997, pp. 2173-2173
SAGITTAL CORONAL CRANIOSYNOSTOSIS ASSOCIATED WITH BALANCED RECIPROCALTRANSLOCATION [T(2-8)(2P16-8P22)] IN AN ARAB GIRL/
Authors: ALTORKI NA ABULHASSAN SJ SABRY MA RASOOL MAA ALJAMEH I ALAWADI SA
Citation: Na. Altorki et al., SAGITTAL CORONAL CRANIOSYNOSTOSIS ASSOCIATED WITH BALANCED RECIPROCALTRANSLOCATION [T(2-8)(2P16-8P22)] IN AN ARAB GIRL/, American journal of human genetics, 61(4), 1997, pp. 2174-2174
PERICENTRIC-INVERSION OF CHROMOSOME-1 AND CHROMOSOME-9 [46,XY,INV(1)(P12-Q13), INV(9)(P11-Q12), 16QH+] IN A MALE WITH REPRODUCTIVE FAILURE
Authors: MURTHY DSK FARAG TI ALAWADI SA
Citation: Dsk. Murthy et al., PERICENTRIC-INVERSION OF CHROMOSOME-1 AND CHROMOSOME-9 [46,XY,INV(1)(P12-Q13), INV(9)(P11-Q12), 16QH+] IN A MALE WITH REPRODUCTIVE FAILURE, American journal of human genetics, 61(4), 1997, pp. 2182-2182
IDENTIFICATION OF CHROMOSOME 15Q11-12 HAPLO-INSUFFIENCY IN THE AUTISTIC DISORDER
Authors: SABRY MA ALSHUBAILI A MAGHRABI MA FARAH S ABULHASSAN SJ RASOOL MAA ALAWADI SA
Citation: Ma. Sabry et al., IDENTIFICATION OF CHROMOSOME 15Q11-12 HAPLO-INSUFFIENCY IN THE AUTISTIC DISORDER, American journal of human genetics, 61(4), 1997, pp. 2193-2193
MARINESCO-SJOGREN-SYNDROME IN A BEDOUIN FAMILY
Authors: FARAH S SABRY MA KHURAIBET AJ ANIM JT QUASRAWI B ALKHATAM S ALBUSAIRI W HUSSEIN JM KHAN RA ALAWADI SA
Citation: S. Farah et al., MARINESCO-SJOGREN-SYNDROME IN A BEDOUIN FAMILY, Acta neurologica Scandinavica, 96(6), 1997, pp. 387-391
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME WITH DYSGENESIS OF THE CORPUS-CALLOSUM IN A BEDOUIN FAMILY
Authors: MARAFIE MJ TEMTAMY SA RAJARAM U ALAWADI SA ELBADRAMANY MH FARAG TI
Citation: Mj. Marafie et al., GREIG CEPHALOPOLYSYNDACTYLY SYNDROME WITH DYSGENESIS OF THE CORPUS-CALLOSUM IN A BEDOUIN FAMILY, American journal of medical genetics, 66(3), 1996, pp. 261-264
FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME WITH BIFID HALLUX, ABSENT TIBIA, AND MACROPHALLUS - A REPORT OF A BEDOUIN BABY
Authors: SABRY MA OBENBERGEROVA D ALSAWAN R ALSALEH Q FARAH S ALAWADI SA FARAG TI
Citation: Ma. Sabry et al., FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME WITH BIFID HALLUX, ABSENT TIBIA, AND MACROPHALLUS - A REPORT OF A BEDOUIN BABY, Journal of Medical Genetics, 33(2), 1996, pp. 165-167
DE-NOVO DIRECT DUPLICATION 7P(P11.2-]PTER) IN AN ARAB CHILD WITH MCA MR SYNDROME - TRISOMY 7P A DELINEATED SYNDROME/
Authors: REDHA MA MURTHY DSK ALAWADI SA ALSULAIMAN IS SABRY MA ELBAHEY SA FARAG TI
Citation: Ma. Redha et al., DE-NOVO DIRECT DUPLICATION 7P(P11.2-]PTER) IN AN ARAB CHILD WITH MCA MR SYNDROME - TRISOMY 7P A DELINEATED SYNDROME/, Annales de genetique, 39(1), 1996, pp. 5-9
RIGHT UPPER-LIMB BUD TRIPLICATION AND POLYTHELIA, LEFT-SIDED HEMIHYPERTROPHY AND CONGENITAL HIP DISLOCATION, FACIAL DYSMORPHISM, CONGENITALHEART-DISEASE, AND SCOLIOSIS - DISORGANIZATION-LIKE SPECTRUM OR PATTERNING GENE DEFECT
Authors: SABRY MA ALSALEH Q ALSAWAN R ALAWADI SA FARAG TI
Citation: Ma. Sabry et al., RIGHT UPPER-LIMB BUD TRIPLICATION AND POLYTHELIA, LEFT-SIDED HEMIHYPERTROPHY AND CONGENITAL HIP DISLOCATION, FACIAL DYSMORPHISM, CONGENITALHEART-DISEASE, AND SCOLIOSIS - DISORGANIZATION-LIKE SPECTRUM OR PATTERNING GENE DEFECT, Journal of Medical Genetics, 32(7), 1995, pp. 555-556
DE-NOVO DIRECT DUPLICATION 7P(P11.3-]PTER) IN AN ARAB CHILD WITH MCA MR SYNDROME - TRISOMY-7P A DELINEATED CHROMOSOMAL SYNDROME/
Authors: REDHA MA MURTHY DSK ALAWADI SA ALSULAIMAN IS SABRY MA ELBAHEY SA FARAG FI
Citation: Ma. Redha et al., DE-NOVO DIRECT DUPLICATION 7P(P11.3-]PTER) IN AN ARAB CHILD WITH MCA MR SYNDROME - TRISOMY-7P A DELINEATED CHROMOSOMAL SYNDROME/, American journal of human genetics, 57(4), 1995, pp. 661-661
A POSSIBLE NEW CRANIO FACIO FRONTO DIGITAL DYSPLASIA
Authors: QASRAWI BM ELGAMAL SA FARAG TI ALAWADI SA ALGENDI II SABRY MA
Citation: Bm. Qasrawi et al., A POSSIBLE NEW CRANIO FACIO FRONTO DIGITAL DYSPLASIA, American journal of human genetics, 57(4), 1995, pp. 1778-1778
A POSSIBLE NEW SYNDROMIC SITUS-INVERSUS TOTALIS IN AN INSTITUTIONALIZED PATIENT
Authors: SABRY MA MUBASHIR MA HASSEEB N ALAWADI SA FARAH SA QASRAWI B ALDABBOUS RM ALBUSAIRI W FARAG TI
Citation: Ma. Sabry et al., A POSSIBLE NEW SYNDROMIC SITUS-INVERSUS TOTALIS IN AN INSTITUTIONALIZED PATIENT, American journal of human genetics, 57(4), 1995, pp. 1782-1782
Risultati: 1-25 | 26-30