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Results: 1-17 |
Results: 17
CHROMOSOME-STUDIES IN 1792 MALES PRIOR TO INTRA-CYTOPLASMIC SPERM INJECTION - THE DUTCH EXPERIENCE
Authors: TUERLINGS JHAM DEFRANCE HF HAMERS A HORDIJK R VANHEMEL JO HANSSON K HOOVERS JMN MADAN K VANDERBLIJPHILIPSEN M GERSSENSCHOORL KBJ KREMER JAM SMEETS DFCM
Citation: Jham. Tuerlings et al., CHROMOSOME-STUDIES IN 1792 MALES PRIOR TO INTRA-CYTOPLASMIC SPERM INJECTION - THE DUTCH EXPERIENCE, European journal of human genetics, 6(3), 1998, pp. 194-200
A DOUBLE MISSENSE MUTATION IN THE ATM GENE OF A DUTCH FAMILY WITH ATAXIA-TELANGIECTASIA
Authors: VANBELZEN MJ HIEL JAP WEEMAES CMR GABREELS FJM VANENGELEN BGM SMEETS DFCM VANDENHEUVEL LPWJ
Citation: Mj. Vanbelzen et al., A DOUBLE MISSENSE MUTATION IN THE ATM GENE OF A DUTCH FAMILY WITH ATAXIA-TELANGIECTASIA, Human genetics, 102(2), 1998, pp. 187-191
LOCALIZATION OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX46) TO XQ25-Q26
Authors: YNTEMA HG HAMEL BCJ SMITS APT VANROOSMALEN T VANDENHELM B KREMER H ROPERS HH SMEETS DFCM VANBOKHOVEN H
Citation: Hg. Yntema et al., LOCALIZATION OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX46) TO XQ25-Q26, Journal of Medical Genetics, 35(10), 1998, pp. 801-805
LOCALIZATION OF THE ICF SYNDROME TO CHROMOSOME-20 BY HOMOZYGOSITY MAPPING
Authors: WIJMENGA C VANDENHEUVEL LPWJ STRENGMAN E LUYTEN JAFM VANDERBURGT IJAM DEGROOT R SMEETS DFCM DRAAISMA JMT VANDONGEN JJ DEABREU RA PEARSON PL SANDKUIJL LA WEEMAES CMR
Citation: C. Wijmenga et al., LOCALIZATION OF THE ICF SYNDROME TO CHROMOSOME-20 BY HOMOZYGOSITY MAPPING, American journal of human genetics, 63(3), 1998, pp. 803-809
AN ALTERNATIVE ROUTE FOR MULTISTEP TUMORIGENESIS IN A NOVEL CASE OF HEREDITARY RENAL-CELL CANCER AND A T(2-3)(Q35-Q21) CHROMOSOME-TRANSLOCATION
Authors: BODMER D ELEVELD MJ LIGTENBERG MJL WETERMAN MAJ JANSSEN BAP SMEETS DFCM DEWIT PEJ VANDENBERG A VANDENBERG E KOOLEN MI VANKESSEL AG
Citation: D. Bodmer et al., AN ALTERNATIVE ROUTE FOR MULTISTEP TUMORIGENESIS IN A NOVEL CASE OF HEREDITARY RENAL-CELL CANCER AND A T(2-3)(Q35-Q21) CHROMOSOME-TRANSLOCATION, American journal of human genetics, 62(6), 1998, pp. 1475-1483
MICRODELETIONS OF THE Y-CHROMOSOME AND INTRACYTOPLASMIC SPERM INJECTION - FROM GENE TO CLINIC
Authors: KREMER JAM TUERLINGS JHAM MEULEMAN EJH SCHOUTE F MARIMAN E SMEETS DFCM HOEFSLOOT LH BRAAT DDM MERKUS HMWM
Citation: Jam. Kremer et al., MICRODELETIONS OF THE Y-CHROMOSOME AND INTRACYTOPLASMIC SPERM INJECTION - FROM GENE TO CLINIC, Human reproduction, 12(4), 1997, pp. 687-691
MISINTERPRETATION OF TRISOMY-18 AS A PSEUDOMOSAICISM AT 3RD-TRIMESTERAMNIOCENTESIS OF A CHILD WITH A MOSAIC 46,XY 47,XY,+3/48,XXY,+18 KARYOTYPE/
Authors: VANRAVENSWAAIJARTS CMA TUERLINGS JHAM VANHEYST AFJ NIJHUIS JG NIEHOF J SMEETS DFCM
Citation: Cma. Vanravenswaaijarts et al., MISINTERPRETATION OF TRISOMY-18 AS A PSEUDOMOSAICISM AT 3RD-TRIMESTERAMNIOCENTESIS OF A CHILD WITH A MOSAIC 46,XY 47,XY,+3/48,XXY,+18 KARYOTYPE/, Prenatal diagnosis, 17(4), 1997, pp. 375-379
A PHENOTYPICAL MALE INFANT WITH 46,X,DER(Y)T(X-Y)(P11) DE-NOVO
Authors: GOVAERTS LCP DRAAISMA JMT VANDERBLIJPHILIPSEN M SMEETS DFCM
Citation: Lcp. Govaerts et al., A PHENOTYPICAL MALE INFANT WITH 46,X,DER(Y)T(X-Y)(P11) DE-NOVO, Annales de genetique, 40(1), 1997, pp. 41-44
X-LINKED MENTAL-RETARDATION - THE NIJMEGEN EXPERIENCE - HIGHLIGHTS AND PITFALLS
Authors: HAMEL BCJ SMEETS DFCM SMITS APT VANDENHELM B KREMER H KNOERS N ROPER HH MARIMAN EC
Citation: Bcj. Hamel et al., X-LINKED MENTAL-RETARDATION - THE NIJMEGEN EXPERIENCE - HIGHLIGHTS AND PITFALLS, American journal of medical genetics, 64(1), 1996, pp. 19-19
X-LINKED MENTAL-RETARDATION - RESULTS OF A COMBINED CLINICAL, CYTOGENETIC AND MOLECULAR APPROACH
Authors: HAMEL BCJ SMEETS DFCM SMITS APT VANDENHELM B KREMER H KNOERS N ROPERS HH MARIMAN EC
Citation: Bcj. Hamel et al., X-LINKED MENTAL-RETARDATION - RESULTS OF A COMBINED CLINICAL, CYTOGENETIC AND MOLECULAR APPROACH, American journal of medical genetics, 64(1), 1996, pp. 19-19
NIJMEGEN-BREAKAGE-SYNDROME - A PROGRESS REPORT
Authors: WEEMAES CMR SMEETS DFCM VANDERBURGT CJAM
Citation: Cmr. Weemaes et al., NIJMEGEN-BREAKAGE-SYNDROME - A PROGRESS REPORT, International journal of radiation biology, 66(6), 1994, pp. 185-188
LATE-ONSET ATAXIA-TELANGIECTASIA IN 2 BROTHERS PRESENTING WITH JUVENILE RESTING TREMOR
Authors: HIEL JAP WEEMAES CMR SMEETS DFCM VANDEVLASAKKER CJW HORSTINK MWIM
Citation: Jap. Hiel et al., LATE-ONSET ATAXIA-TELANGIECTASIA IN 2 BROTHERS PRESENTING WITH JUVENILE RESTING TREMOR, Movement disorders, 9(4), 1994, pp. 460-462
ICF SYNDROME - A NEW CASE AND REVIEW OF THE LITERATURE
Authors: SMEETS DFCM MOOG U WEEMAES CMR VAESPEETERS G MERKX GFM NIEHOF JP HAMERS G
Citation: Dfcm. Smeets et al., ICF SYNDROME - A NEW CASE AND REVIEW OF THE LITERATURE, Human genetics, 94(3), 1994, pp. 240-246
CONGENITAL ATRICHIA, PALMOPLANTAR HYPERKERATOSIS, MENTAL-RETARDATION,AND EARLY LOSS OF TEETH IN 4 SIBLINGS - A NEW SYNDROME
Authors: STEIJLEN PM NEUMANN HAM DERKINDEREN DJ SMEETS DFCM VANDERKERKHOF PCM HAPPLE R
Citation: Pm. Steijlen et al., CONGENITAL ATRICHIA, PALMOPLANTAR HYPERKERATOSIS, MENTAL-RETARDATION,AND EARLY LOSS OF TEETH IN 4 SIBLINGS - A NEW SYNDROME, Journal of the American Academy of Dermatology, 30(5), 1994, pp. 893-898
MOSAIC TETRASOMY 8P IN 2 PATIENTS - CLINICAL-DATA AND REVIEW OF THE LITERATURE
Authors: SCHRANDERSTUMPEL CTRM GOVAERTS CP ENGELEN JJM VANDERBLIJPHILIPSEN M BORGHGRAEF M LOOTS WJG PETERS JJM RIJNVOS WPM SMEETS DFCM FRYNS JP
Citation: Ctrm. Schranderstumpel et al., MOSAIC TETRASOMY 8P IN 2 PATIENTS - CLINICAL-DATA AND REVIEW OF THE LITERATURE, American journal of medical genetics, 50(4), 1994, pp. 377-380
DOWN-TURNER SYNDROME - CASE-REPORT AND REVIEW
Authors: VANBUGGENHOUT GJCM HAMEL BCJ TROMMELEN JCM MIELOO H SMEETS DFCM
Citation: Gjcm. Vanbuggenhout et al., DOWN-TURNER SYNDROME - CASE-REPORT AND REVIEW, Journal of Medical Genetics, 31(10), 1994, pp. 807-810
SEGREGATION OF FRAXE IN A LARGE FAMILY - CLINICAL, PSYCHOMETRIC, CYTOGENETIC, AND MOLECULAR-DATA
Authors: HAMEL BCJ SMITS APT DEGRAAFF E SMEETS DFCM SCHOUTE F EUSSEN BHJ KNIGHT SJL DAVIES KE ASSMANHULSMANS CFCH OOSTRA BA
Citation: Bcj. Hamel et al., SEGREGATION OF FRAXE IN A LARGE FAMILY - CLINICAL, PSYCHOMETRIC, CYTOGENETIC, AND MOLECULAR-DATA, American journal of human genetics, 55(5), 1994, pp. 923-931
Risultati: 1-17 |