By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. [books.google.com]

Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]

All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information. [books.google.com]

Readership: Human geneticists, radiologists, orthopedic doctors, pediatricians, and pathologists. Table of contents Section I Skeletal Dysplasias with Predominant Metaphyseal Involvement 1. [axon.es]

Brand new chapters provide up-to-date, comprehensive coverage of topics relevant to current practice: -First Trimester Fetal Anatomy -Obstetric Ultrasound and the Obese Patient -Evaluation of Pelvic Pain in the Reproductive Age Patient -Gynecologic Ultrasound [books.google.com]

painful, palagonia, palate, pallidoluysian, pallister, palm, palmaris, palmitoyl, palmo-plantar, palmoplantar, palmoplantar-periodontopathy, palmoplantaris, palsy, pan, pancreas, pancreatic, pancreatitis, pancreatoblastoma, pancytopenia, panencephalitis [rapsodyonline.eurordis.org]

The patient exhibited premature loss of primary teeth, likely to be a sign of increased periodontal bone resorption. Markers of bone formation and resorption were both increased, an indication of a high rate of bone turnover. [ncbi.nlm.nih.gov]

In a large German pedigree, a locus for CMDJ has been mapped previously to the short arm of chromosome 5 (5p15.2-p14.1), defining a 19-cM disease interval between markers D5S2004 and D5S502. [link.springer.com]

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum. Mol. Genet. 3, 247–252 (1994). 11. Tinschert, S. & Braun, H.-S. [nature.com]

It is characterized by short stature with short legs, bowing of the long bones, coxa vara, and waddling gait. [blueprintgenetics.com]

Metaphyseal dysplasia, also known as Pyle's disease, is a rare recessive bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses, widening of the ribs and clavicles, platyspondyly [blueprintgenetics.com]

Achondroplasia is characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. The estimated incidence is at about 1/25,000 live births worldwide. [blueprintgenetics.com]

Brand new chapters provide up-to-date, comprehensive coverage of topics relevant to current practice: -First Trimester Fetal Anatomy -Obstetric Ultrasound and the Obese Patient -Evaluation of Pelvic Pain in the Reproductive Age Patient -Gynecologic Ultrasound [books.google.com]

Features new practice guidelines for obstetric evaluation (including first trimester assessment) and gynecologic management (including evaluation of the endometrium and of ovarian masses). [books.google.com]