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Results: 1-16 |
Results: 16
ACUTE AIRWAY-OBSTRUCTION IN HUNTER-SYNDROME
Authors: YOSKOVITCH A TEWFIK TL BROUILLETTE RT SCHLOSS MD DERKALOUSTIAN VM
Citation: A. Yoskovitch et al., ACUTE AIRWAY-OBSTRUCTION IN HUNTER-SYNDROME, International journal of pediatric otorhinolaryngology, 44(3), 1998, pp. 273-278
POSTNATAL OBESITY, MENTAL-RETARDATION, ASYMMETRY AND CONGENITAL-ANOMALIES OF THE FACE AND HANDS - A NEW SYNDROME
Authors: DERKALOUSTIAN VM LAMBERT DM WATTERS G ANDERMANN F CLARKE F
Citation: Vm. Derkaloustian et al., POSTNATAL OBESITY, MENTAL-RETARDATION, ASYMMETRY AND CONGENITAL-ANOMALIES OF THE FACE AND HANDS - A NEW SYNDROME, American journal of human genetics, 61(4), 1997, pp. 533-533
THE GENE RESPONSIBLE FOR CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA MAPS TO THE PERICENTROMERIC REGION OF CHROMOSOME 13Q
Authors: KIBAR Z DERKALOUSTIAN VM BRAIS B HANI V FRASER FC ROULEAU GA
Citation: Z. Kibar et al., THE GENE RESPONSIBLE FOR CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA MAPS TO THE PERICENTROMERIC REGION OF CHROMOSOME 13Q, Human molecular genetics, 5(4), 1996, pp. 543-547
LOCALIZATION OF THE USHER-SYNDROME TYPE ID GENE (USH1D) TO CHROMOSOME-10
Authors: WAYNE S DERKALOUSTIAN VM SCHLOSS M POLOMENO R SCOTT DA HEJTMANCIK JF SHEFFIELD VC SMITH RJH
Citation: S. Wayne et al., LOCALIZATION OF THE USHER-SYNDROME TYPE ID GENE (USH1D) TO CHROMOSOME-10, Human molecular genetics, 5(10), 1996, pp. 1689-1692
SCHINZEL-GIEDION SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE
Authors: ELLIOTT AM MEAGHERVILLEMURE K OUDJHANE K DERKALOUSTIAN VM
Citation: Am. Elliott et al., SCHINZEL-GIEDION SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE, Clinical dysmorphology, 5(2), 1996, pp. 135-142
POSSIBLE NEW VARIANT OF NIJMEGEN BREAKAGE SYNDROME
Authors: DERKALOUSTIAN VM KLEIJER W BOOTH A AUERBACH AD MAZER B ELLIOTT AM ABISH S USHER R WATTERS G VEKEMANS M EYDOUX P
Citation: Vm. Derkaloustian et al., POSSIBLE NEW VARIANT OF NIJMEGEN BREAKAGE SYNDROME, American journal of medical genetics, 65(1), 1996, pp. 21-26
SKELETAL AND CARDIAC-MALFORMATIONS WITH THROMBOCYTOPENIA - A NEW SYNDROME
Authors: RUPPS R ELLIOTT AM AZOUZ EM BERNSTEIN ML KAPLAN P EYDOUX P DERKALOUSTIAN VM
Citation: R. Rupps et al., SKELETAL AND CARDIAC-MALFORMATIONS WITH THROMBOCYTOPENIA - A NEW SYNDROME, American journal of medical genetics, 64(3), 1996, pp. 497-500
PELIZAEUS-MERZBACHER-DISEASE IN A FAMILY OF PORTUGUESE ORIGIN CAUSED BY A POINT MUTATION IN EXON-5 OF THE PROTEOLIPID PROTEIN GENE
Authors: PRATT VM BOYADJIEV S DLOUHY SR SILVER K DERKALOUSTIAN VM HODES ME
Citation: Vm. Pratt et al., PELIZAEUS-MERZBACHER-DISEASE IN A FAMILY OF PORTUGUESE ORIGIN CAUSED BY A POINT MUTATION IN EXON-5 OF THE PROTEOLIPID PROTEIN GENE, American journal of medical genetics, 55(4), 1995, pp. 402-404
SEVERE INTRAUTERINE GROWTH-RETARDATION WITH INCREASED MITOMYCIN-C SENSITIVITY, OR NIJMEGEN BREAKAGE SYNDROME
Authors: DERKALOUSTIAN VM ELLIOTT AM EYDOUX P
Citation: Vm. Derkaloustian et al., SEVERE INTRAUTERINE GROWTH-RETARDATION WITH INCREASED MITOMYCIN-C SENSITIVITY, OR NIJMEGEN BREAKAGE SYNDROME, Journal of Medical Genetics, 32(12), 1995, pp. 998-998
SKELETAL AND CARDIAC-MALFORMATIONS WITH THROMBOCYTOPENIA - A NEW SYNDROME
Authors: ELLIOTT AM RUPPS R AZOUZ EM BERNSTEIN ML EYDOUX P KAPLAN P DERKALOUSTIAN VM
Citation: Am. Elliott et al., SKELETAL AND CARDIAC-MALFORMATIONS WITH THROMBOCYTOPENIA - A NEW SYNDROME, American journal of human genetics, 57(4), 1995, pp. 479-479
DE-NOVO DELETION OF 22Q11 IN 2 MALE SIBLINGS WITH DIFFERENT PHENOTYPES
Authors: EYDOUX P KASPRZAK L ELLIOTT AM SHEVELL M DERKALOUSTIAN VM
Citation: P. Eydoux et al., DE-NOVO DELETION OF 22Q11 IN 2 MALE SIBLINGS WITH DIFFERENT PHENOTYPES, American journal of human genetics, 57(4), 1995, pp. 630-630
LINKAGE ANALYSIS OF THE NAIL-PATELLA SYNDROME
Authors: CAMPEAU E WATKINS D ROULEAU GA BABUL R BUCHANAN FA MESCHINO W DERKALOUSTIAN VM
Citation: E. Campeau et al., LINKAGE ANALYSIS OF THE NAIL-PATELLA SYNDROME, American journal of human genetics, 56(1), 1995, pp. 243-247
NO MENTAL-RETARDATION IN A MAN WITH 40-PERCENT ABNORMAL METHYLATION AT THE FMR-1 LOCUS AND TRANSMISSION OF SPERM CELL MUTATIONS AS PREMUTATIONS
Authors: ROUSSEAU F ROBB LJ ROUILLARD P DERKALOUSTIAN VM
Citation: F. Rousseau et al., NO MENTAL-RETARDATION IN A MAN WITH 40-PERCENT ABNORMAL METHYLATION AT THE FMR-1 LOCUS AND TRANSMISSION OF SPERM CELL MUTATIONS AS PREMUTATIONS, Human molecular genetics, 3(6), 1994, pp. 927-930
FETAL ALCOHOL SYNDROME AND BILATERAL TIBIAL EXOSTOSES - A CASE-REPORT
Authors: AZOUZ EM KAVIANIAN G DERKALOUSTIAN VM
Citation: Em. Azouz et al., FETAL ALCOHOL SYNDROME AND BILATERAL TIBIAL EXOSTOSES - A CASE-REPORT, Pediatric radiology, 23(8), 1993, pp. 615-616
PROLIDASE DEFICIENCY - A MULTISYSTEMIC HEREDITARY DISORDER
Authors: BISSONNETTE R FRIEDMANN D GIROUX JM DOLENGA M HECHTMAN P DERKALOUSTIAN VM DUBUC R
Citation: R. Bissonnette et al., PROLIDASE DEFICIENCY - A MULTISYSTEMIC HEREDITARY DISORDER, Journal of the American Academy of Dermatology, 29(5), 1993, pp. 818-821
LINKAGE STUDIES IN NAIL-PATELLA SYNDROME
Authors: WATKINS D CAMPEAU E ROULEAU GA BABUL R BUCHANAN JA MESCHINO W DERKALOUSTIAN VM
Citation: D. Watkins et al., LINKAGE STUDIES IN NAIL-PATELLA SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1098-1098
Risultati: 1-16 |