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Results: 1-14 |
Results: 14
HIGH-LEVEL OF UNEQUAL MEIOTIC CROSSOVERS AT THE ORIGIN OF THE 22Q11.2AND 7Q11.23 DELETIONS
Authors: BAUMER A DUTLY F BALMER D RIEGEL M TUKEL T KRAJEWSKAWALASEK M SCHINZEL AA
Citation: A. Baumer et al., HIGH-LEVEL OF UNEQUAL MEIOTIC CROSSOVERS AT THE ORIGIN OF THE 22Q11.2AND 7Q11.23 DELETIONS, European journal of human genetics, 6, 1998, pp. 703-703
CENTRAL-NERVOUS-SYSTEM ANOMALIES IN NIJMEGEN BREAKAGE SYNDROME - CLINICAL AND CRANIAL MRI FINDINGS
Authors: CHRZANOWSKA KH SIKORSKA J BEKIESINSKAFIGATOWSKA M WALECKI J KRAJEWSKAWALASEK M JOZWIAK S
Citation: Kh. Chrzanowska et al., CENTRAL-NERVOUS-SYSTEM ANOMALIES IN NIJMEGEN BREAKAGE SYNDROME - CLINICAL AND CRANIAL MRI FINDINGS, European journal of human genetics, 6, 1998, pp. 1021-1021
THE SMITH-LEMLI-OPITZ-SYNDROME FROM INFANCY TO ADOLESCENCE - CLINICALAND BIOCHEMICAL-STUDIES
Authors: KRAJEWSKAWALASEK M GRADOWSKA W RYZKO J SOCHA P CHRZANOWSKA K CHMIELIK J SZAPLYKO W KASPRZYK J SZRETER M WOLSKI J GORSKA B RYSIEWSKI H GREGOREK H MICHALKIEWICZ J
Citation: M. Krajewskawalasek et al., THE SMITH-LEMLI-OPITZ-SYNDROME FROM INFANCY TO ADOLESCENCE - CLINICALAND BIOCHEMICAL-STUDIES, European journal of human genetics, 6, 1998, pp. 1022-1022
IDENTIFICATION OF 3 NOVEL OTC GENE-MUTATIONS IN POLISH PATIENTS
Authors: POPOWSKA E CIARA E ROKICKI D PRONICKA E KRAJEWSKAWALASEK M
Citation: E. Popowska et al., IDENTIFICATION OF 3 NOVEL OTC GENE-MUTATIONS IN POLISH PATIENTS, European journal of human genetics, 6, 1998, pp. 4099-4099
MOLECULAR ANALYSIS OF 15Q11-13 REGION IN PRADER-WILLI AND ANGELMAN-SYNDROMES
Authors: BIELINSKA B POPOWSKA E KRAJEWSKAWALASEK M
Citation: B. Bielinska et al., MOLECULAR ANALYSIS OF 15Q11-13 REGION IN PRADER-WILLI AND ANGELMAN-SYNDROMES, European journal of human genetics, 6, 1998, pp. 4102-4102
HIGH-LEVEL OF UNEQUAL MEIOTIC CROSSOVERS AT THE ORIGIN OF THE 22Q11.2AND 7Q11.23 DELETIONS
Authors: BAUMER A DUTLY F BALMER D RIEGEL M TUKEL T KRAJEWSKAWALASEK M SCHINZEL AA
Citation: A. Baumer et al., HIGH-LEVEL OF UNEQUAL MEIOTIC CROSSOVERS AT THE ORIGIN OF THE 22Q11.2AND 7Q11.23 DELETIONS, Human molecular genetics, 7(5), 1998, pp. 887-894
KABUKI (NIIKAWA-KUROKI) SYNDROME-ASSOCIATED WITH IMMUNODEFICIENCY
Authors: CHRZANOWSKA KH KRAJEWSKAWALASEK M KUS J MICHALKIEWICZ J MAZIARKA D WOLSKI JK BRECEVIC L MADALINSKI K
Citation: Kh. Chrzanowska et al., KABUKI (NIIKAWA-KUROKI) SYNDROME-ASSOCIATED WITH IMMUNODEFICIENCY, Clinical genetics, 53(4), 1998, pp. 308-312
THE MOST USEFUL PROCEDURES IN THE DIAGNOSIS OF PRADER-WILLI AND ANGELMAN-SYNDROMES - COMPARISON OF CYTOGENETIC AND MOLECULAR RESULTS IN 50 PATIENTS
Authors: GUTKOWSKA A BIELINSKA B POPOWSKA E KRAJEWSKAWALASEK M
Citation: A. Gutkowska et al., THE MOST USEFUL PROCEDURES IN THE DIAGNOSIS OF PRADER-WILLI AND ANGELMAN-SYNDROMES - COMPARISON OF CYTOGENETIC AND MOLECULAR RESULTS IN 50 PATIENTS, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 228-228
DISTINCT CLINICAL EFFECT IN SIMILAR RECIPROCAL X-8 TRANSLOCATIONS CARRIERS
Authors: PANASIUK B MIDRO AT LESNIEWICZ R KRAJEWSKAWALASEK M CHMIELINSKA E LIEBAERS I VANASSCHE E WOLCZYNSKI S
Citation: B. Panasiuk et al., DISTINCT CLINICAL EFFECT IN SIMILAR RECIPROCAL X-8 TRANSLOCATIONS CARRIERS, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 265-265
THE CYTOGENETICS OF POLISH-NIJMEGEN-BREAKAGE-SYNDROME PATIENTS
Authors: BIALECKA M CHRZANOWSKA K GUTKOWSKA A KRAJEWSKAWALASEK M
Citation: M. Bialecka et al., THE CYTOGENETICS OF POLISH-NIJMEGEN-BREAKAGE-SYNDROME PATIENTS, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 301-301
ANOTHER PATIENT WITH AN UNUSUAL SYNDROME OF MENTAL-RETARDATION AND SPARSE HAIR
Authors: KRAJEWSKAWALASEK M CHRZANOWSKA K CZERMISKAKOWALSKA A
Citation: M. Krajewskawalasek et al., ANOTHER PATIENT WITH AN UNUSUAL SYNDROME OF MENTAL-RETARDATION AND SPARSE HAIR, Clinical dysmorphology, 5(2), 1996, pp. 183-186
THE MUTATIONAL SPECTRUM IN WAARDENBURG SYNDROME
Authors: TASSABEHJI M NEWTON VE LIU XZ BRADY A DONNAI D KRAJEWSKAWALASEK M MURDAY V NORMAN A OBERSZTYN E REARDON W RICE JC TREMBATH R WIEACKER P WHITEFORD M WINTER R READ AP
Citation: M. Tassabehji et al., THE MUTATIONAL SPECTRUM IN WAARDENBURG SYNDROME, Human molecular genetics, 4(11), 1995, pp. 2131-2137
11 POLISH PATIENTS WITH MICROCEPHALY, IMMUNODEFICIENCY, AND CHROMOSOMAL INSTABILITY - THE NIJMEGEN BREAKAGE SYNDROME
Authors: CHRZANOWSKA KH KLEIJER WJ KRAJEWSKAWALASEK M BIALECKA M GUTKOWSKA A GORYLUKKOZAKIEWICZ B MICHALKIEWICZ J STACHOWSKI J GREGOREK H LYSONWOJCIECHOWSKA G JANOWICZ W JOZWIAK S
Citation: Kh. Chrzanowska et al., 11 POLISH PATIENTS WITH MICROCEPHALY, IMMUNODEFICIENCY, AND CHROMOSOMAL INSTABILITY - THE NIJMEGEN BREAKAGE SYNDROME, American journal of medical genetics, 57(3), 1995, pp. 462-471
A FURTHER REPORT OF BRACHMANN-DELANGE-SYNDROME IN 2 SIBS WITH NORMAL PARENTS
Authors: KRAJEWSKAWALASEK M CHRZANOWSKA K TYLKISZYMANSKA A BIALECKA M
Citation: M. Krajewskawalasek et al., A FURTHER REPORT OF BRACHMANN-DELANGE-SYNDROME IN 2 SIBS WITH NORMAL PARENTS, Clinical genetics, 47(6), 1995, pp. 324-327
Risultati: 1-14 |