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Journal of Maternal-Fetal and Neonatal Medicine, ISSN 1476-7058, 4/2012, Volume 25, Issue S1, pp. 25 - 29
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 08/2011, Volume 24, Issue 7-8, pp. 543 - 548
Objective: To develop a reliable and accurate preimplantation genetic diagnosis (PGD) method in six families with endocrine diseases: persistent... 
persistent hyperinsulinemic hypoglycemia of infancy | multiple endocrine neoplasia 2A | preimplantation genetic diagnosis | Sanjat-Sakati syndrome | congenital adrenal hyperplasia | JANUARY | CONGENITAL HYPOPARATHYROIDISM | SINGLE CELLS | 21-HYDROXYLASE DEFICIENCY | ALLELE DROPOUT | DYSMORPHISM | RETARDATION | CYCLES | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | MUTATIONS | PREGNANCY FOLLOW-UP | Endocrine System Diseases - congenital | Nesidioblastosis - prevention & control | Adrenal Hyperplasia, Congenital - prevention & control | Seizures - genetics | Seizures - prevention & control | Humans | Family Health | Male | Hypoparathyroidism - genetics | Seizures - congenital | Adrenal Hyperplasia, Congenital - genetics | Bone Diseases, Developmental - genetics | Hypoparathyroidism - prevention & control | Intellectual Disability - genetics | Intellectual Disability - prevention & control | Nesidioblastosis - congenital | Growth Disorders - congenital | Osteochondrodysplasias - genetics | Adult | Female | Endocrine System Diseases - genetics | Bone Diseases, Developmental - congenital | Abnormalities, Multiple - genetics | Congenital Hyperinsulinism | Endocrine System Diseases - prevention & control | Pancreatic Diseases - congenital | Bone Diseases, Developmental - prevention & control | Hypoparathyroidism - congenital | Growth Disorders - prevention & control | Abnormalities, Multiple - prevention & control | Multiple Endocrine Neoplasia Type 2a - prevention & control | Genetic Markers | Pancreatic Diseases - prevention & control | Preimplantation Diagnosis - methods | Pancreatic Diseases - genetics | Pregnancy | Embryo Transfer | Osteochondrodysplasias - congenital | Multiple Endocrine Neoplasia Type 2a - congenital | Osteochondrodysplasias - prevention & control | Israel | Growth Disorders - genetics | Multiple Endocrine Neoplasia Type 2a - genetics | Pregnancy Outcome | Nesidioblastosis - genetics
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 8, p. e23350
Journal Article
International Ophthalmology, ISSN 0165-5701, 4/2014, Volume 34, Issue 2, pp. 351 - 354
Journal Article
Journal Article
Medicine, ISSN 0025-7974, 01/2019, Volume 98, Issue 1, p. e13780
Journal Article
Iranian Journal of Medical Sciences, ISSN 0253-0716, 01/2016, Volume 41, Issue 1, pp. 64 - 66
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding... 
Male | Osteochondrodysplasias | Congenital | Adrenal hyperplasia | Humans | Case studies | Care and treatment | Dysplasia | Genetic disorders | Adrenogenital syndrome | Genetic aspects | Diagnosis | Case Report
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2018, Volume 26, Issue 6, pp. 876 - 885
Journal Article