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Physicians often have only partial knowledge of common congenital hand and upper extremity anomalies and their associated syndromes. Surgeons typically find these syndromes to be …
For those like me who witnessed the beginning of the adventure of human mitochon- drial pathology, one can only be astounded by the extent and unexpectedness of what the field has …
The rapid advances in medicine over the last 50 years have totally changed the outlook for children with disorders of sex development (DSD), but there is still much to learn. This …
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant …
This atlas provides a practical guide to the diagnosis of congenital heart disease using echocardiography in both adults and children. A plethora of high-quality echocardiography …
For many years the etiology of human tumors has almost exclusively been attributed to environmental factors, which seemed to be involved not only in the induction of neo- plasms …
Die moderne Reproduktionsmedizin wird oftmals als letzte Chance von Partnern ausgewählt, um ihren starken, bisher unerfüllten Wunsch nach einem eigenen Kind einzulösen - ungeachtet …
Although Prader-Willi syndrome was first described 35 years ago, it was following detection of an interstitial chromosome 15q deletion in some affected patients ten years ago that …
For more than 100 years, congenital dislocation of the hip has been an area of concern in orthopedics. This publications on the subject are al- most too numerous to count. Yet our …