Detail
Article
Online article
FT
Medvik - BMC
  • Something wrong with this record ?

Nosologie a klasifikace genetických kostních chorob: revize 2015 [Nosology and classification of genetic skeletal disorders: 2015 revision]

Luisa Bonafe, Valerie Cormier-Daire, Christine Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jurgen Spranger, Andrea Superti-Furga, Matthew Warman, Sheila Unger

. 2016 ; 23 (1) : 20-37.

Language Czech Country Czech Republic

Persistent link   https://www.medvik.cz/link/bmc16033422

Nosology and classification of genetic skeletal disorders: 2015 revision

Bibliography, etc.

Literatura

000      
00000naa a2200000 a 4500
001      
bmc16033422
003      
CZ-PrNML
005      
20171018125730.0
007      
cr|cn|
008      
161127s2016 xr fs 000 0|cze||
009      
eAR
040    __
$a ABA008 $d ABA008 $e AACR2 $b cze
041    0_
$a cze
044    __
$a xr
100    1_
$a Bonafe, Luisa $u Centre des Maladies Moleculaires CHUV, University of Lausanne, Switzerland
245    10
$a Nosologie a klasifikace genetických kostních chorob: revize 2015 / $c Luisa Bonafe, Valerie Cormier-Daire, Christine Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jurgen Spranger, Andrea Superti-Furga, Matthew Warman, Sheila Unger
246    31
$a Nosology and classification of genetic skeletal disorders: 2015 revision
504    __
$a Literatura
650    _2
$a lidé $7 D006801
650    _2
$a genetické nemoci vrozené $x klasifikace $7 D030342
650    12
$a nemoci kostí $x genetika $x klasifikace $7 D001847
700    1_
$a Cormier-Daire, Valerie $u IMAGINE Institute, Hopital Necker Enfants Malade, Paris, France3Department of Radiology, Great Ormond Street Hospital, London, UK
700    1_
$a Hall, Christine $u International Skeletal Dysplasia Registry, University of California, Los Angeles, California
700    1_
$a Lachman, Ralph $u Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium
700    1_
$a Mortier, Geert $u Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
700    1_
$a Mundlos, Stefan $u Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany; Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan
700    1_
$a Nishimura, Gen $u Department of Medical Genetics and Skeletal Rare Diseases, IRCCS Rizzoli Orthopaedic Institute (IOR), Bologna, Italy
700    1_
$a Sangiorgi, Luca $u Murdoch Childrens Research Institute and University of Melbourne, Parkville, Australia
700    1_
$a Savarirayan, Ravi $u Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medical School, University of Sydney, Head
700    1_
$a Sillence, David $u Connective Tissue Dysplasia Management Service, The Children's Hospital at Westmead, Sydney, Australia
700    1_
$a Spranger, Jürgen W., $d 1931- $7 uk2009407411 $u Sinzheim, Germany
700    1_
$a Superti-Furga, Andrea $u Department of Pediatrics, CHUV, University of Lausanne, Switzerland
700    1_
$a Warman, Matthew $u Orthopaedic Research Laboratories, Boston Children's Hospital Boston
700    1_
$a Unger, Sheila $u Medical Genetics Service, CHUV, University of Lausanne, Switzerland
773    0_
$t Pohybové ústrojí. Pokroky ve výzkumu, diagnostice a terapii $x 2336-4777 $g Roč. 23, č. 1 (2016), s. 20-37 $w MED00011216
773    0_
$t Kubátův podologický den $g (2015), s. x $w MED00154906
856    41
$u http://www.pojivo.cz/pu/PohyboveUstroji_2016_1019.pdf $y domovská stránka časopisu - plný text volně přístupný
910    __
$a ABA008 $b online $y 4 $z 0
990    __
$a 20161124103422 $b ABA008
991    __
$a 20171018125803 $b ABA008
999    __
$a ok $b bmc $g 1174458 $s 958120
BAS    __
$a 3 $a 4
BMC    __
$a 2016 $b 23 $c 1 $d 20-37 $i 2336-4777 $m Pohybové ústrojí. Pokroky ve výzkumu, diagnostice a terapii $n Pohyb. ústrojí, Pokroky výzk. diagn. ter. $x MED00011216
LZP    __
$c NLK120 $d 20170809 $a NLK 2016-42/vt

Find record

Citation metrics

Archiving options