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Results: 1-10 |
Results: 10
SCREENING OF POINT MUTATIONS USING SSCP AND HETERODUPLEX ANALYSIS IN TURKISH DMD BMD FAMILIES/
Authors: ERASLAN S CELIK A GOKGOZ N KAYSERILI H APAK M KIRDAR B
Citation: S. Eraslan et al., SCREENING OF POINT MUTATIONS USING SSCP AND HETERODUPLEX ANALYSIS IN TURKISH DMD BMD FAMILIES/, European journal of human genetics, 6, 1998, pp. 4124-4124
DELETION ANALYSIS OF SMNTEL, NAIP AND BTF2P44TEL GENES IN TURKISH SMAFAMILIES
Authors: SAVAS S GOKGOZ N KAYSERILI H OZKINAY F APAK M KIRDAR B
Citation: S. Savas et al., DELETION ANALYSIS OF SMNTEL, NAIP AND BTF2P44TEL GENES IN TURKISH SMAFAMILIES, European journal of human genetics, 6, 1998, pp. 4145-4145
CYSTIC-FIBROSIS MUTATIONS AND ASSOCIATED HAPLOTYPES IN TURKEY
Authors: ONAY T TOPALOGLU O KAYSERILI H CAMCIOGLU Y COKUGRAS H AKCAKAYA N APAK M KIRDAR B
Citation: T. Onay et al., CYSTIC-FIBROSIS MUTATIONS AND ASSOCIATED HAPLOTYPES IN TURKEY, European journal of human genetics, 6, 1998, pp. 4158-4158
ANALYSIS OF THE CFTR GENE IN TURKISH CYSTIC-FIBROSIS PATIENTS - IDENTIFICATION OF 3 NOVEL MUTATIONS (3172DELAC, P1013L AND M1028I)
Authors: ONAY T TOPALOGLU O ZIELENSKI J GOKGOZ N KAYSERILI H CAMCIOGLU Y COKUGRAS H AKCAKAYA N APAK M TSUI LC KIRDAR B
Citation: T. Onay et al., ANALYSIS OF THE CFTR GENE IN TURKISH CYSTIC-FIBROSIS PATIENTS - IDENTIFICATION OF 3 NOVEL MUTATIONS (3172DELAC, P1013L AND M1028I), Human genetics, 102(2), 1998, pp. 224-230
7 CASES OF WIEDEMANN-BECKWITH-SYNDROME, INCLUDING THE FIRST REPORTED CASE OF MOSAIC PATERNAL ISODISOMY ALONG THE WHOLE CHROMOSOME-11
Authors: DUTLY F BAUMER A KAYSERILI H YUKSELAPAK M ZEROVA T HEBISCH G SCHINZEL A
Citation: F. Dutly et al., 7 CASES OF WIEDEMANN-BECKWITH-SYNDROME, INCLUDING THE FIRST REPORTED CASE OF MOSAIC PATERNAL ISODISOMY ALONG THE WHOLE CHROMOSOME-11, American journal of medical genetics, 79(5), 1998, pp. 347-353
THE IDENTIFICATION OF DE-NOVO STRUCTURAL CHROMOSOME-ABNORMALITIES BY FISH
Authors: KARAMAN B BASARAN S KILIC G AYTAN M KAYSERILI H APAK MY
Citation: B. Karaman et al., THE IDENTIFICATION OF DE-NOVO STRUCTURAL CHROMOSOME-ABNORMALITIES BY FISH, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 23-23
IDENTIFICATION OF THE PARENTAL ORIGIN OF POLYSOMY IN 2 49,XXXXY CASES
Authors: CELIK A ERASLAN S GOKGOZ N ILGIN H BASARAN S BOKESOY I KAYSERILI H APAK MY KIRDAR B
Citation: A. Celik et al., IDENTIFICATION OF THE PARENTAL ORIGIN OF POLYSOMY IN 2 49,XXXXY CASES, Clinical genetics, 51(6), 1997, pp. 426-429
LAPAROSCOPIC REMOVAL OF UTERUS, SEMINAL-VESICLE AND BILATERAL OVOTESTES HARBORING MATURE TERATOMA AND CARCINOID-TUMOR IN AN INTERSEX PATIENT
Authors: ESEN T ERDOGRU T MUSLUMANOGLU M KILICASLAN I KAYSERILI H
Citation: T. Esen et al., LAPAROSCOPIC REMOVAL OF UTERUS, SEMINAL-VESICLE AND BILATERAL OVOTESTES HARBORING MATURE TERATOMA AND CARCINOID-TUMOR IN AN INTERSEX PATIENT, The Journal of urology, 155(6), 1996, pp. 2032-2033
UNUSUAL MOLECULAR FINDINGS IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY
Authors: MATTHIJS G SCHOLLEN E LEGIUS E DEVRIENDT K GOEMANS N KAYSERILI H APAK MY CASSIMAN JJ
Citation: G. Matthijs et al., UNUSUAL MOLECULAR FINDINGS IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY, Journal of Medical Genetics, 33(6), 1996, pp. 469-474
A NATURALLY-OCCURRING INSULIN-RECEPTOR MUTANT (ASP707ALA) IS UNABLE TO BIND INSULIN - TRITON X100 RESTORES INSULIN BINDING AND SIGNALING
Authors: MAASSEN JA THART LM KAYSERILI H LINDHOUT D VANDERZON GCM
Citation: Ja. Maassen et al., A NATURALLY-OCCURRING INSULIN-RECEPTOR MUTANT (ASP707ALA) IS UNABLE TO BIND INSULIN - TRITON X100 RESTORES INSULIN BINDING AND SIGNALING, Diabetes, 45, 1996, pp. 1270-1270
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