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Revisiting the Implications of a Wide or Narrow Fetal Cavum Septi Pellucidi.
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- Journal of Ultrasound in Medicine, 2024, v. 43, n. 8, p. 1461, doi. 10.1002/jum.16470
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- Article
Prenatal diagnosis of ROR‐2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities.
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- Prenatal Diagnosis, 2024, v. 44, n. 5, p. 653, doi. 10.1002/pd.6543
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- Article
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis.
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- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 422, doi. 10.1002/pd.6466
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- Article
Validation of low‐pass genome sequencing for prenatal diagnosis.
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- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 443, doi. 10.1002/pd.6525
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- Article
45,X/46,XY mosaicism: Clinical manifestations and long term follow‐up.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63451
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- Article
Lung Hypoplasia in Fetuses with Skeletal Dysplasia Determined by Fetal Lung Weight: Which Ultrasound Measurement/Ratio Has the Highest Detection Rate.
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- Fetal Diagnosis & Therapy, 2024, v. 51, n. 1, p. 23, doi. 10.1159/000534209
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- Article
Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management.
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- Prenatal Diagnosis, 2023, v. 43, n. 13, p. 1650, doi. 10.1002/pd.6473
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- Article
Heart transplantation in neonatal Marfan syndrome: Saving life in a rare and fatal condition.
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- Pediatric Transplantation, 2023, v. 27, n. 6, p. 1, doi. 10.1111/petr.14560
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- Article
Parental Preferences for Expanded Newborn Screening: What Are the Limits?
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- Children, 2023, v. 10, n. 8, p. 1362, doi. 10.3390/children10081362
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- Article
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1935, doi. 10.1002/ajmg.a.63203
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- Article
De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1607, doi. 10.1002/ajmg.a.63175
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- Article
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 6, p. 2285, doi. 10.1093/brain/awac461
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- Article
Anterior extension of the choroid plexus into the frontal horns of the fetal lateral cerebral ventricles: Prenatal findings and postnatal outcome.
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- Prenatal Diagnosis, 2023, v. 43, n. 6, p. 756, doi. 10.1002/pd.6344
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- Article
Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1282, doi. 10.1002/ajmg.a.63150
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- Article
Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report.
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- 2023
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- Case Study
Reproductive Safety of Lurasidone and Quetiapine: Update from the National Pregnancy Registry for Psychiatric Medications.
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- Journal of Women's Health (15409996), 2023, v. 32, n. 4, p. 452, doi. 10.1089/jwh.2022.0310
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- Article
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 760, doi. 10.1002/ajmg.a.63071
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- Publication type:
- Article
Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations.
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- Congenital Heart Disease, 2023, v. 18, n. 2, p. 213, doi. 10.32604/chd.2023.023042
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- Article
Risk of major malformations in infants after first‐trimester exposure to benzodiazepines: Results from the Massachusetts General Hospital National Pregnancy Registry for Psychiatric Medications.
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- Depression & Anxiety (1091-4269), 2022, v. 39, n. 12, p. 751, doi. 10.1002/da.23280
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- Article
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
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- Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1686, doi. 10.1002/pd.6269
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- Article
Functional Expression of Multidrug-Resistance (MDR) Transporters in Developing Human Fetal Brain Endothelial Cells.
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- Cells (2073-4409), 2022, v. 11, n. 14, p. N.PAG, doi. 10.3390/cells11142259
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- Article
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies.
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- Prenatal Diagnosis, 2022, v. 42, n. 7, p. 822, doi. 10.1002/pd.6108
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- Publication type:
- Article
Adapting obstetric and neonatal services during the COVID-19 pandemic: a scoping review.
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- BMC Pregnancy & Childbirth, 2022, v. 22, n. 1, p. 119, doi. 10.1186/s12884-022-04409-4
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- Article
The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3793, doi. 10.1002/ajmg.a.62452
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- Article
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
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- Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab245
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- Article
Mild Idiopathic Infantile Hypercalcemia--Part 1: Biochemical and Genetic Findings.
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- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 10, p. 2915, doi. 10.1210/clinem/dgab431
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- Publication type:
- Article
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24852-9
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- Article
Reproductive safety of aripiprazole: data from the Massachusetts General Hospital National Pregnancy Registry for Atypical Antipsychotics.
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- Archives of Women's Mental Health, 2021, v. 24, n. 4, p. 659, doi. 10.1007/s00737-021-01115-6
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- Article
Correction to: Reproductive safety of aripiprazole: data from the Massachusetts General Hospital National Pregnancy Registry for Atypical Antipsychotics.
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- 2021
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- Publication type:
- Correction Notice
Tumor surveillance for children and adolescents with cancer predisposition syndromes: The psychosocial impact reported by adolescents and caregivers.
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- Pediatric Blood & Cancer, 2021, v. 68, n. 8, p. 1, doi. 10.1002/pbc.29021
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- Article
Heterozygous NOTCH1 deletion associated with variable congenital heart defects.
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- Clinical Genetics, 2021, v. 99, n. 6, p. 836, doi. 10.1111/cge.13948
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- Article
Cover Image.
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- Prenatal Diagnosis, 2021, v. 41, n. 7, p. i, doi. 10.1002/pd.5982
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- Article
Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith‐Wiedemann syndrome.
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- Prenatal Diagnosis, 2021, v. 41, n. 7, p. 798, doi. 10.1002/pd.5930
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- Publication type:
- Article
The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1151, doi. 10.1002/ajmg.a.62092
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- Article
Pancreatic β-Cell-Specific Deletion of VPS41 Causes Diabetes Due to Defects in Insulin Secretion.
- Published in:
- 2021
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- Publication type:
- journal article
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
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- Clinical Genetics, 2020, v. 98, n. 6, p. 613, doi. 10.1111/cge.13844
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- Article
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
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- JAMA Network Open, 2020, v. 3, n. 9, p. e2018109, doi. 10.1001/jamanetworkopen.2020.18109
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- Article
A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.
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- Clinical Genetics, 2020, v. 98, n. 3, p. 299, doi. 10.1111/cge.13804
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- Article
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
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- Human Mutation, 2020, v. 41, n. 9, p. 1615, doi. 10.1002/humu.24067
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- Article
Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.
- Published in:
- 2020
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- Publication type:
- journal article
Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1807, doi. 10.1002/ajmg.a.61621
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- Publication type:
- Article
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1496, doi. 10.1002/ajmg.a.61569
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- Publication type:
- Article
Newborn with bilateral congenital cataracts: Never forget congenital rubella syndrome.
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- Paediatrics & Child Health (1205-7088), 2020, v. 25, n. 2, p. 72, doi. 10.1093/pch/pxz005
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- Publication type:
- Article
Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Questions.
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- Pediatric Nephrology, 2020, v. 35, n. 2, p. 253, doi. 10.1007/s00467-019-04345-0
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- Article
Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Answers.
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- Pediatric Nephrology, 2020, v. 35, n. 2, p. 257, doi. 10.1007/s00467-019-04348-x
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- Publication type:
- Article
Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives.
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- Journal of Genetic Counseling, 2019, v. 28, n. 5, p. 982, doi. 10.1002/jgc4.1150
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- Publication type:
- Article
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 16, p. 2720, doi. 10.1093/hmg/ddz091
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- Publication type:
- Article
Cover Image.
- Published in:
- Prenatal Diagnosis, 2019, v. 39, n. 9, p. i, doi. 10.1002/pd.5543
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- Publication type:
- Article
Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes.
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- 2019
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- Publication type:
- journal article
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.
- Published in:
- 2019
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- Publication type:
- journal article