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1
المؤلفون: Olaf Rittinger, Christiane Zweier, Nataliya Di Donato, Dagmar Wieczorek, Juliane Hoyer, Trevor Cole, Ingrid Bader, Franziska Degenhardt, Siren Berland, Sally Ann Lynch, Ingrid Vlasak, Luitgard Graul-Neumann
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 166:290-301
مصطلحات موضوعية: Genetics, Hand deformity, medicine.medical_specialty, Clinodactyly, integumentary system, business.industry, Börjeson-Forssman-Lehmann syndrome, medicine.disease, Phenotype, Dermatology, Skin hyperpigmentation, Prominent supraorbital ridges, Intellectual disability, Medicine, medicine.symptom, business, Coffin–Siris syndrome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6d6032a2bd87261f9d3b8b08e3b6f48cTest
https://doi.org/10.1002/ajmg.c.31408Test -
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المؤلفون: Christiane, Zweier, Olaf, Rittinger, Ingrid, Bader, Siren, Berland, Trevor, Cole, Franziska, Degenhardt, Nataliya, Di Donato, Luitgard, Graul-Neumann, Juliane, Hoyer, Sally Ann, Lynch, Ingrid, Vlasak, Dagmar, Wieczorek
المصدر: American journal of medical genetics. Part C, Seminars in medical genetics. (3)
مصطلحات موضوعية: Epilepsy, Hypogonadism, Micrognathism, Nails, Malformed, Pedigree, Fingers, Repressor Proteins, Young Adult, Face, Intellectual Disability, Mental Retardation, X-Linked, Humans, Abnormalities, Multiple, Female, Obesity, Carrier Proteins, Child, Hand Deformities, Congenital, Genetic Association Studies, Growth Disorders, Neck
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::97332f2f41a13d43560d958999431fe6Test
https://pubmed.ncbi.nlm.nih.gov/25099957Test -
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المؤلفون: Klaus Schmitt, Gabriele Häusler, Peter Blümel, Herwig Frisch, Ingrid Vlasak, Eva Bergendi, Martin Borkenstein, Gabriela Kronberger, György Fekete, Josef Glatzl, Magda Kadrnka-Lovrencic, Engelbert Plöchl, Monika Hagemann, Olaf Rittinger
المصدر: Klinische Padiatrie. 211(1)
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Gonad, Adolescent, Gonadal tumors, Gonadoblastoma, Turner Syndrome, Biology, Y chromosome, Bioinformatics, law.invention, law, Risk Factors, Y Chromosome, Turner syndrome, medicine, Humans, Genetic Testing, Risk factor, Child, Polymerase chain reaction, Ovarian Neoplasms, Mosaicism, medicine.disease, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ace2365de498afca3e3837248c016641Test
https://pubmed.ncbi.nlm.nih.gov/10067216Test -
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المؤلفون: Kadir Tosun, Germar M. Pinggera, Peter Rehder, Ralf Herwig, Ingrid Vlasak, Engelbert Plöchl, Martina Witsch-Baumgartner, Georg Bartsch
المصدر: Journal of Urology. 171:412-412
مصطلحات موضوعية: Genetics, business.industry, Urology, Point mutation, Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::da9e4d38762e8cc4d86e129959a5129aTest
https://doi.org/10.1016/s0022-5347Test(18)38770-6 -
5
المؤلفون: Eva Bergendi, Olaf Rittinger, Engelbert Plöchl, Wolfgang Muss, Ingrid Vlasak
المصدر: Europe PubMed Central
مصطلحات موضوعية: Ovarian Neoplasms, Genetics, Gonad, Mosaicism, Ovariectomy, Turner Syndrome, Gonadoblastoma, Locus (genetics), Karyotype, Biology, medicine.disease, Y chromosome, Polymerase Chain Reaction, Short stature, Testis determining factor, medicine.anatomical_structure, Y Chromosome, Pediatrics, Perinatology and Child Health, Turner syndrome, medicine, Humans, Female, medicine.symptom, Child, In Situ Hybridization, Fluorescence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f21a651f69039f06c5f3c8cbd72551Test
http://europepmc.org/abstract/med/9183775Test