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2014, ISBN 0253012244, xiv, 261
Book
Clinical genetics, ISSN 0009-9163, 02/2017, Volume 91, Issue 2, pp. 339 - 343
Say–Barber–Biesecker–Young–Simpson syndrome, SBBYSS | KAT6B | lysine acetyltransferase 6B | genitopatellar syndrome | KAT6B spectrum disorders | GTPTS | KAT6B‐related disorders | KAT6B-related disorders | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Joint Instability - diagnosis | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Genetic disorders | Multiprocessing | Lysine | Genetic aspects | Nucleotide sequencing | DNA sequencing | Genotype & phenotype | Index Medicus
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
BLEPHAROPHIMOSIS | OHDO SYNDROME | DE-NOVO MUTATIONS | MENTAL-RETARDATION | HISTONE ACETYLTRANSFERASE KAT6B | CAUSE GENITOPATELLAR SYNDROME | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Index Medicus | Life Sciences | Human genetics | Medicin och hälsovetenskap
Journal Article
Best practice & research. Clinical obstetrics & gynaecology, ISSN 1521-6934, 2014, Volume 28, Issue 3, pp. 403 - 415
Obstetrics and Gynecology | prenatal diagnosis | renal tract anomalies | ultrasound | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Urogenital Abnormalities - diagnostic imaging | Pregnancy Trimester, Second | Kidney - embryology | Ureter - abnormalities | Kidney Diseases - congenital | Humans | Fetal Diseases - diagnostic imaging | Kidney Diseases - diagnostic imaging | Congenital Abnormalities - diagnostic imaging | Pregnancy Trimester, First | Urinary Bladder - abnormalities | Polycystic Kidney Diseases - diagnostic imaging | Pregnancy | Urethra - diagnostic imaging | Kidney - abnormalities | Kidney - diagnostic imaging | Urethra - abnormalities | Urogenital Abnormalities - surgery | Ultrasonography, Prenatal | Urinary Bladder - diagnostic imaging | Female | Fetal Diseases - surgery | Ureter - diagnostic imaging | Dilatation, Pathologic - diagnostic imaging | Pregnant women | Genetic disorders | Diagnosis | Index Medicus
Journal Article
Prenatal diagnosis, ISSN 0197-3851, 12/2016, Volume 36, Issue 13, pp. 1270 - 1275
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Oligohydramnios - diagnostic imaging | Eye Abnormalities - diagnostic imaging | Fraser Syndrome - diagnosis | Kidney - embryology | Humans | Syndactyly - diagnostic imaging | Craniofacial Abnormalities - embryology | Eye Abnormalities - embryology | Ear - embryology | Abnormalities, Multiple - embryology | Ear - diagnostic imaging | Fraser Syndrome - embryology | Kidney - diagnostic imaging | Airway Obstruction - diagnostic imaging | Airway Obstruction - embryology | Female | Fraser Syndrome - diagnostic imaging | Infant, Newborn | Urogenital Abnormalities - diagnosis | Ear - abnormalities | Hydrops Fetalis - diagnostic imaging | Congenital Abnormalities - embryology | Congenital Abnormalities - diagnostic imaging | Gestational Age | Pregnancy | Phenotype | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Ultrasonography, Prenatal | Abnormalities, Multiple - diagnosis | Prenatal Diagnosis - methods | Employee dismissals | Dysplasia | Pregnant women | Multiple abnormalities | Analysis | Index Medicus
Journal Article
Thyroid (New York, N.Y.), ISSN 1050-7256, 10/2014, Volume 24, Issue 10, pp. 1533 - 1540
Pregnancy and Fetal Development | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Hyperthyroidism - diagnosis | Humans | Child, Preschool | Infant | Male | Craniofacial Abnormalities - surgery | Case-Control Studies | Time Factors | Urogenital Abnormalities - chemically induced | Female | Registries | Child | Infant, Newborn | Severity of Illness Index | Antithyroid Agents - adverse effects | Propylthiouracil - adverse effects | Risk Assessment | Urogenital Abnormalities - diagnosis | Abnormalities, Drug-Induced - surgery | Risk Factors | Proportional Hazards Models | Hyperthyroidism - drug therapy | Craniofacial Abnormalities - chemically induced | Pregnancy Complications - diagnosis | Chi-Square Distribution | Pregnancy Complications - drug therapy | Pregnancy | Craniofacial Abnormalities - diagnosis | Urogenital Abnormalities - surgery | Abnormalities, Drug-Induced - etiology | Denmark | Abnormalities, Drug-Induced - diagnosis | Index Medicus
Journal Article
Taiwanese journal of obstetrics & gynecology, ISSN 1028-4559, 03/2020, Volume 59, Issue 2, pp. 183 - 188
Genital anomalies | Primary amenorrhea | Vaginal agenesis | Müllerian malformations | Pelvic pain | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Hysteroscopy | Vagina - surgery | Endometriosis - diagnosis | Humans | Congenital Abnormalities - etiology | Vagina - abnormalities | Pelvic Pain - diagnosis | Dysmenorrhea - congenital | Congenital Abnormalities - diagnosis | Ultrasonography | Adult | Female | Pelvic Pain - congenital | Pelvic Pain - surgery | Endometriosis - surgery | Urogenital Abnormalities - diagnosis | Uterus - abnormalities | Laparoscopy | Uterus - surgery | Hysterosalpingography | Pregnancy | Congenital Abnormalities - surgery | Magnetic Resonance Imaging | Mullerian Ducts - abnormalities | Sexual Dysfunction, Physiological - etiology | Sexual Dysfunction, Physiological - surgery | Urogenital Abnormalities - complications | Urogenital Abnormalities - surgery | Endometriosis - congenital | Dysmenorrhea - diagnosis | Dysmenorrhea - surgery | Sexual Dysfunction, Physiological - diagnosis | Care and treatment | Diagnosis | Genitourinary organs | Abnormalities
Journal Article
Human reproduction update, ISSN 1355-4786, 2016, Volume 22, Issue 1, pp. 48 - 69
Unilateral renal agenesis | Vaginal atresia | Classification | Cervicovaginal agenesis | Cloacal anomalies | Management | Obstructive anomalies | Urogenital sinus | Complex malformations | Female genital tract anomalies | Life Sciences & Biomedicine | Obstetrics & Gynecology | Reproductive Biology | Science & Technology | Urogenital Abnormalities - diagnosis | Kidney Diseases - congenital | Humans | Kidney Diseases - diagnosis | Vagina - abnormalities | Uterus - abnormalities | Genitalia, Female - embryology | Unnecessary Procedures | Congenital Abnormalities - diagnosis | Reproduction | Kidney - abnormalities | Kidney Diseases - therapy | Quality of Life | Female | Genitalia, Female - abnormalities | Early Diagnosis | Urogenital Abnormalities - therapy | Congenital Abnormalities - therapy | Index Medicus
Journal Article
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 11/2015, Volume 46, Issue 5, pp. 616 - 622
magnetic resonance imaging | congenital uterine anomalies | uterine malformations | 3D‐US | uterine abnormalities | three‐dimensional ultrasonography | Müllerian duct anomalies | 3D-US | three-dimensional ultrasonography | Acoustics | Life Sciences & Biomedicine | Technology | Radiology, Nuclear Medicine & Medical Imaging | Obstetrics & Gynecology | Science & Technology | Uterus - pathology | Reproducibility of Results | Urogenital Abnormalities - diagnosis | Humans | Vagina - abnormalities | Uterus - abnormalities | Mullerian Ducts - pathology | Mullerian Ducts - abnormalities | Urogenital Abnormalities - pathology | Societies, Medical | Cervix Uteri - pathology | Female | Cervix Uteri - abnormalities | Retrospective Studies | Vagina - pathology | Index Medicus
Journal Article