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American journal of obstetrics and gynecology, ISSN 0002-9378, 12/2019, Volume 221, Issue 6, pp. B10 - B12
Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Polycystic Kidney Diseases - genetics | Breech Presentation - diagnosis | Pregnancy Trimester, Second | Polycystic Kidney Diseases - diagnosis | Genetic Testing | Humans | Clubfoot - complications | Polycystic Kidney Diseases - complications | Clubfoot - diagnosis | Clubfoot - etiology | Arthrogryposis - diagnosis | Clubfoot - genetics | Heart Defects, Congenital - genetics | Amniotic Band Syndrome - complications | Retinitis Pigmentosa - complications | Microarray Analysis | Ciliary Motility Disorders - complications | Chorionic Villi Sampling | Chromosome Disorders - diagnosis | Female | Bone Diseases, Developmental - complications | Amniotic Band Syndrome - diagnosis | Bone Diseases, Developmental - diagnosis | Encephalocele - genetics | Amniocentesis | Diagnosis, Differential | Encephalocele - diagnosis | Pierre Robin Syndrome - complications | Clubfoot - diagnostic imaging | Arthrogryposis - complications | Chromosome Disorders - complications | Retinitis Pigmentosa - genetics | Oligohydramnios - diagnosis | Encephalocele - complications | Pierre Robin Syndrome - diagnosis | Retinitis Pigmentosa - diagnosis | Pregnancy | Heart Defects, Congenital - complications | Pierre Robin Syndrome - genetics | Ultrasonography, Prenatal | Ciliary Motility Disorders - diagnosis | Heart Defects, Congenital - diagnosis | Chromosome Disorders - genetics | Ciliary Motility Disorders - genetics | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 2010, Volume 87, Issue 2, pp. 219 - 228
Journal Article
European journal of endocrinology, ISSN 0804-4643, 03/2020, Volume 182, Issue 3, pp. C9 - C12
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Immunologic Deficiency Syndromes - etiology | Skin Diseases - genetics | Humans | Brain Diseases - genetics | Growth Disorders - etiology | Addison Disease - complications | Nephrotic Syndrome - genetics | Adrenal Hyperplasia, Congenital - genetics | Bone Diseases, Developmental - genetics | Cardiomyopathies - etiology | Bone Diseases, Developmental - physiopathology | Brain Diseases - physiopathology | Cardiomyopathies - genetics | Cardiomyopathies - physiopathology | Molecular Diagnostic Techniques | Adrenal Hyperplasia, Congenital - diagnosis | Addison Disease - genetics | Skin Diseases - physiopathology | Brain Diseases - etiology | Disorders of Sex Development - physiopathology | Hypoadrenocorticism, Familial - complications | Bone Diseases, Developmental - etiology | Hypoadrenocorticism, Familial - physiopathology | Addison Disease - physiopathology | Adrenal Hyperplasia, Congenital - complications | Disorders of Sex Development - genetics | Addison Disease - diagnosis | Skin Diseases - etiology | Nephrotic Syndrome - physiopathology | Immunologic Deficiency Syndromes - physiopathology | Adrenal Hyperplasia, Congenital - physiopathology | Disorders of Sex Development - etiology | Immunologic Deficiency Syndromes - genetics | Hypoadrenocorticism, Familial - diagnosis | Hypoadrenocorticism, Familial - genetics | Growth Disorders - genetics | Nephrotic Syndrome - etiology | Growth Disorders - physiopathology | Corticoids | Pediatrics | Orchidectomy | Kidneys | Glucocorticoids | Adrenal glands | Adrenal cortex | Heredity | Thyroid gland | Hydrocortisone | Patients | Pregnancy | Bone growth | Fertility | Bone marrow | Children | Diagnosis | Parathyroid | Gonads | Thyroid | Tumors
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2015, Volume 23, Issue 9, pp. 1176 - 1185
Journal Article
The journal of clinical endocrinology and metabolism, ISSN 0021-972X, 05/2017, Volume 102, Issue 5, pp. 1661 - 1672
Journal Article
Journal Article