نتایج جستجو برای: q12

تعداد نتایج: 725  

Journal: :Journal of medical genetics 2000
L Faivre M Le Merrer A Megarbane B Gilbert G Mortier V Cusin A Munnich P Maroteaux V Cormier-Daire

Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive disorder belonging to the group of acromesomelic dysplasias. AMDM is characterised by severe dwarfism with shortening of the middle and distal segments of the limbs. An AMDM gene has recently been mapped to human chromosome 9p13-q12 by homozygosity mapping in four consanguineous families. Here, we show linkage of the diseas...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2019

Journal: :Genetics and Molecular Biology 2000

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2017

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2017

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2020

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

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