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Human Genetics(15,782)
ISSN: 0340-6717
1    
Jones EM and Tansey EM (eds): Clinical molecular genetics in the UK c.1975–c.2000. Wellcome witnesses to contemporary medicine, vol 48 Queen Mary, University of London, 2... 期刊论文

Human genetics     ISSN:0340-6717  Volume:135  Issue:2  Page:257-258  

Wilkie Andrew;  

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2    
R-BANDING AND NONISOTOPIC INSITU HYBRIDIZATION - PRECISE LOCALIZATION OF THE HUMAN TYPE-II COLLAGEN GENE (COL2A1) 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:86  Issue:1  Page:14-16  

TAKAHASHI E;   HORI TA;   OCONNELL P;   LEPPERT M;   WHITE R;  

被引频次:340

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3    
FREQUENCY OF HETEROZYGOUS COMPLETE HYDATIDIFORM MOLES, ESTIMATED BY LOCUS-SPECIFIC MINISATELLITE AND Y-CHROMOSOME-SPECIFIC PROBES 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:82  Issue:3  Page:259-263  

FISHER RA;   POVEY S;   JEFFREYS AJ;   MARTIN CA;   PATEL I;   ...

被引频次:49

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4    
MATERNAL LEVELS OF PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN (SP-1) ARE ELEVATED IN PREGNANCIES AFFECTED BY DOWNS-SYNDROME 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:80  Issue:1  Page:46-48  

BARTELS I;   LINDEMANN A;  

被引频次:38

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5    
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII) 期刊论文

Human Genetics     ISSN:0340-6717  Volume:104  Issue:1  Page:94-98  

Huie M.L;   Shanske A.L;   Kasper J.S;   Marion R.W;   Hirschhorn R;  

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6    
GENETIC-DIFFERENCES IN CYSTIC-FIBROSIS PATIENTS WITH AND WITHOUT PANCREATIC INSUFFICIENCY - AN ITALIAN COLLABORATIVE STUDY 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:84  Issue:5  Page:435-438  

FERRARI M;   ANTONELLI M;   BELLINI F;   BORGO G;   CASTIGLIONE O;   ...

被引频次:15

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7    
DISTRIBUTION PATTERNS OF THE DELTA-F508 MUTATION IN THE CFTR GENE ON CF-LINKED MARKER HAPLOTYPES IN THE GERMAN POPULATION 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:85  Issue:4  Page:421-422  

REIS A;   BREMER S;   SCHLOSSER M;   DUECK M;   BOHM I;   ...

被引频次:11

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8    
DISTRIBUTION OF MEIOTIC RECOMBINATION ALONG NONDISJUNCTION CHROMOSOMES-21 IN DOWN SYNDROME DETERMINED USING CYTOGENETICS AND RFLP HAPLOTYPING 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:83  Issue:3  Page:280-286  

MEIJER H;   HAMERS GJH;   JONGBLOED RJE;   VAESPEETERS GPM;   VANDERHULST RRWJ;   ...

被引频次:14

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9    
LINKAGE DISEQUILIBRIUM BETWEEN CYSTIC-FIBROSIS LOCUS AND 3 DNA MARKERS, XV-2C, KM19 AND MP6D-9, IN 43 SPANISH FAMILIES 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:84  Issue:4  Page:379-380  

FERNANDEZ E;   BENITEZ J;   VILLAMAR M;   RAMOS C;  

被引频次:2

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10    
Esterase D-Polymorphismus: Darstellung in der hochspannungselektrophorese und mitteilung von allelhäufigkeiten,ESTERASE D POLYMORPHISMUS: DARSTELLUNG IN DER HOCHSPANNUNGS... 期刊论文

Human Genetics     ISSN:0340-6717  Volume:23  Issue:4  Page:315-318  

Bender K;   Bender K;   Frank R;   Frank Rosita;  

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11    
Chromatidaustausch und Heterochromatinveränderungen menschlicher Chromosomen nach BUdR-Markierung - Nachweis mit Benzimidazolfluorochrom und Giemsafarbstoff,CHROMATIDAUST... 期刊论文

Human Genetics     ISSN:0340-6717  Volume:25  Issue:3  Page:179-188  

Kim M.A;   Kim My A;  

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12    
Chemische Mutagenese beim Säuger. Das Knochenmark des Chinesischen Hamsters als in vivo-Testsystem. Hämatologische Befunde nach Behandlung mit Trenimon 期刊论文

Human Genetics     ISSN:0340-6717  Volume:11  Issue:1  Page:35-54  

Boller K;   Schmid W;  

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13    
DIAGNOSIS OF AUTOSOMAL MONOGENIC HYPERCHOLESTEROLEMIA USING LYMPHOCYTES AS TEST MATERIAL 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:57  Issue:3  Page:285-289  

WICHMANN T;   FREYE HA;   BERNDT K;  

被引频次:4

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14    
Erratum zu: Zum praktischen Wert des Lymphozytenmodells für die pathogenetische Beurteilung einzelner Serumcholesterinfraktionen des Menschen bei der autosomal-monogenen ... 期刊论文

Human Genetics     ISSN:0340-6717  Volume:58  Issue:4  Page:448-448  

Wichmann Th;   Freye H -A;   Berndt K;  

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15    
Zum praktischen Wert des Lymphozytenmodells f r die pathogenetische Beurteilung einzelner Serumcholesterinfraktionen des Menschen bei der autosomal-monogenen Hypercholest... 期刊论文

Human genetics     ISSN:0340-6717  Volume:57  Issue:3  

Wichmann Th;   Freye H.-A;   Berndt K;  

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16    
Defizienz an den kurzen Armen eines Chromosomes Nr. 4 期刊论文

Human Genetics     ISSN:0340-6717  Volume:1  Issue:5  Page:397-413  

Wolf U;   Reinwein H;   Porsch Renate;   Schröter Renate;   Baitsch H;  

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17    
NUCLEOLUS ORGANIZER REGIONS ON MITOTIC AND MEIOTIC CHROMOSOMES FROM INFERTILE MALES INVESTIGATED USING A SPECIFIC SILVER STAIN 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:48  Issue:1  Page:39-43  

IRONSIDE J;   FAED MJW;  

被引频次:10

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18    
Announcements 期刊论文

Human Genetics     ISSN:0340-6717  Volume:61  Issue:3  Page:279-279  

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19    
KARYOTYP PHENOTYP KORRELATION BEI EINEM 46,XDEL(X)(P22) BEFUND,Karyotyp-Phenotyp-Lorrelation bei einem 46,Xdel(X)(p22)-Befund 期刊论文

Human Genetics     ISSN:0340-6717  Volume:31  Issue:3  Page:263-270  

Bartsch Sandhoff M;   Bartsch-Sandhoff M;   Terinde R;   Terinde R;   Wiegelmann W;   ...

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20    
Announcements 期刊论文

Human genetics     ISSN:0340-6717  Volume:53  Issue:3  Page:435-435  

Gottron-Just-Preis;  

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