دانلود کتاب دیسپلازی اسکلتی جنینی و پری ناتال
Fetal and Perinatal Skeletal Dysplasias 2nd Edition

This atlas is intended to give obstetricians, paediatricians, neonatologists, radiologists, molecular and clinical geneticists and anatomo-pathologists, a thorough insight into conditions (and variants) of skeletal dysplasias. Clinical and imaging findings are properly illustrated, enriched by updated genetic information. This acclaimed text returns in a revised form, with updated material, particularly on the new knowledge surrounding the genetic basis and mechanism for the various skeletal dysplasias. No clinician dealing with fetal or neonatal skeletal diagnosis or treatment will want to be without access to the wealth of illustrations and detail condensed here.

Presents a clear and consistent rubric for approaching approximately 150 types of skeletal dysplasias
Meets the needs of clinical gynaecologists, obstetricians, paediatricians, radiologists and geneticists
Offers an essential, concise resource for the diagnosis of skeletal dysplasias which present prenatally and perinatally

About the Author

Christine M Hall was a founding member of the International Skeletal Dysplasia Society in 1999 and was president in 2000 and 2001.

۱. Thanatophoric Dysplasia, Types 1 and 2, FGFR3-Related
۲. Achondroplasia, FGFR3-Related
۳. Hypochondroplasia, FGFR3-Related
۴. Achondrogenesis Type 2/Hypochondrogenesis, COL2A1-Related
۵. Platyspondylic Dysplasia, Torrance Type, COL2A1-Related
۶. Spondyloepiphyseal Dysplasia Congenita and Spondyloepimetaphyseal Dysplasia (SEMD) Strudwick Type, COL2A1-Related
۷. Kniest Dysplasia, COL2A1-Related
۸. Stickler Syndrome, COL2A1-Related
۹. Fibrochondrogenesis, COL11A1- and COL11A2-Related
۱۰. Otospondylomegaepiphyseal Dysplasia, Recessive and Dominant Types, COL11A2-Related
۱۱. Achondrogenesis (Type 1B), SLC26A2-Related
۱۲. Atelosteogenesis (Type 2), SLC26A2-Related
۱۳. Diastrophic Dysplasia, SLC26A2-Related
۱۴. Chondrodysplasia with Congenital Joint Dislocations (Recessive Larsen Syndrome), CHST3-Related
۱۵. Desbuquois Dysplasia, CANT1-Related
۱۶. SEMD with Joint Laxity (SEMD-JL, Hall Type), KIF22-Related
۱۷. SEMD with Joint Laxity (SEMD-JL, Beighton Type), B3GALT6-Related
۱۸. Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphisms and Skeletal Dysplasia, with or without Heart Defects (Pseudodiastrophic Dysplasia), B3GAT3-Related
۱۹. Frontometaphyseal Dysplasia, FLNA-, MAP3K7- and TAB2-Related
۲۰. Melnick-Needles Syndrome (Osteodysplasty), FLNA-Related

More…

۱۲۰. Femur-Fibula-Ulna Syndrome
۱۲۱. Sirenomelia
۱۲۲. Fanconi Anaemia
۱۲۳. Split Hand-Foot Malformation (Isolated Form, Types 1–۶)
۱۲۴. Mirror-Image Polydactyly of Hands and Feet (Laurin-Sandrow), SHH-Related
۱۲۵. Greig Cephalopolysyndactyly Syndrome, GLI3-Related
۱۲۶. Pallister-Hall Syndrome, GLI3-Related
۱۲۷. Cerebroarthrodigital Syndrome
۱۲۸. Cerebro-Osseous-Digital Syndrome
۱۲۹. DK Phocomelia
۱۳۰. Kaufman-McKusick Syndrome, MKKS-Related
۱۳۱. Menkes Disease, ATP7A-Related
۱۳۲. Multiple Pterygium Syndrome, CHRNG-, CHRNAL- and CHRND-Related
۱۳۳. OEIS Complex
۱۳۴. Schinzel-Giedion Syndrome, SETBP1-Related

قیمت : 3000 تومان

لینک کوتاه : https://bookbaz.ir/?p=429013
نویسنده : Christine M Hall
ناشر : CRC Press; 2nd edition
سال انتشار : 2024
زبان کتاب : انگلیسی
نوع فایل : PDF (نسخه اصلی)
تعداد صفحات : 700
(ISBN) شابک : 0367764431
قیمت کتاب درآمازون : $209.00
حجم فایل : 378 MB

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دانلود کتاب دیسپلازی اسکلتی جنینی و پری ناتالFetal and Perinatal Skeletal Dysplasias 2nd Edition

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دانلود کتاب دیسپلازی اسکلتی جنینی و پری ناتال
Fetal and Perinatal Skeletal Dysplasias 2nd Edition