Found: 28
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Genetics Corner: A Term Infant with a Bilateral Cleft Lip and Palate and Coarctation of the Aorta.
- Published in:
- Neonatology Today, 2024, v. 19, n. 3, p. 143
- By:
- Publication type:
- Article
Genetics Corner: Resolved Fetal Hydrops in a Newborn with Noonan Syndrome.
- Published in:
- Neonatology Today, 2024, v. 19, n. 2, p. 179
- By:
- Publication type:
- Article
Genetics Corner: A Premature Infant with Meconium Peritonitis Inspires an Update on the First Cases of In Utero Therapy for Meconium Ileus Due to Cystic Fibrosis.
- Published in:
- Neonatology Today, 2024, v. 19, n. 1, p. 179
- By:
- Publication type:
- Article
Genetics Corner: An infant with a CHARGE-like syndrome and dual diagnoses: Xq28 duplication and Exon 38/39 KMT2D Missense Variant syndrome.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Genetics Corner: Persistent Hypoglycemia in a Malnourished Infant with Hypertrophic Pyloric Stenosis.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Genetics Corner: Sleep-Disordered Breathing in a Term Newborn with Achondroplasia.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Genetics Corner: Genetics Corner: PHACES Syndrome in an Infant with Segmental Facial Hemangiomas and Stridor.
- Published in:
- Neonatology Today, 2023, v. 18, n. 4, p. 168
- By:
- Publication type:
- Article
Genetics Corner: Menkes Disease in an Infant who Presented with Recurrent Infections.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Genetics Corner: Syndromic Etiology of Apparently Isolated Clubfeet: a Child with Loeys-Dietz Syndrome.
- Published in:
- Neonatology Today, 2022, v. 17, n. 4, p. 127
- By:
- Publication type:
- Article
Genetics Corner: "Coat-hanger" ribs and Bell-Shaped Thorax in an Infant with Paternal Uniparental Disomy for Chromosome 14.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Genetics Corner: Cat-Eye-Syndrome and Genetic Syndromes Associated with Ear Anomalies.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Genetics Corner: A Newborn with a Disorder of Sex Development Caused by 45,X/46,X,idic(Y) Mosaicism.
- Published in:
- Neonatology Today, 2021, v. 16, n. 11, p. 133, doi. 10.51362/neonatology.today/2021111611133136
- By:
- Publication type:
- Article
Atypical Williams Syndrome in a Child who Presented with Aortic Stenosis and Coarctation and a Positive Family History.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Genetic Corner: Diaphragmatic Hernia in an Infant with a Type II Distal Deletion of 22q11.2 (LCR22E-F).
- Published in:
- 2021
- By:
- Publication type:
- Case Study
The Genetics Corner: A Mother and Child with Cleft lip and Palate Have an Atypical 1p36 Deletion that Disrupts KIF1B, a Cause of Autosomal Dominant Charcot-Marie-Tooth Disease, Type 2A1.
- Published in:
- Neonatology Today, 2021, v. 16, n. 8, p. 118, doi. 10.51362/neonatology.today/20218168118121
- By:
- Publication type:
- Article
The Genetics Corner: A Preterm Infant with Down Syndrome Complicated by Severe Transient Abnormal Myelopoiesis.
- Published in:
- Neonatology Today, 2021, v. 16, n. 7, p. 125, doi. 10.51362/neonatology.today/20217167124125
- By:
- Publication type:
- Article
Genetics Corner: Multisuture Craniosynostosis Secondary to Intrauterine Constraint During Gestation in a Bicornuate Uterus.
- Published in:
- Neonatology Today, 2021, v. 16, n. 6, p. 131
- By:
- Publication type:
- Article
Genetics Corner: Trichothiodystrophy 1 Causes Neutropenia in an Infant with Congenital ichthyosis and Brittle Hair.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Genetics Corner: Risk of Epilepsy in an Asymptomatic Infant with Prenatally Diagnosed Tuberous Sclerosis.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
The Genetics Corner: DiGeorge Anomaly Associated with Diabetic Embryopathy in an Infant without a Deletion on Chromosome 22q11.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
The Genetics Corner: HNF1B-Related Bilateral Cystic Kidney Disease in an Infant and his Asymptomatic Mother.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
The Genetics Corner: Congenital Microcephaly and a Region of Homozygosity on Chromosome 1 that was not Reported on the Prenatal Chromosome Microarray.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Kabuki Syndrome in a Newborn with a Complex Left-Sided Cardiac Lesion and Persistent Hypoglycemia due to Hyperinsulinism.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
The Genetics Corner: A Consultation for Neonatal Diabetes Mellitus Reveals Uniparental Disomy 6.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
A Cytogenetic Abnormality in Tuberous Sclerosis.
- Published in:
- Annals of the New York Academy of Sciences, 1991, v. 615, n. 1, p. 243, doi. 10.1111/j.1749-6632.1991.tb37765.x
- By:
- Publication type:
- Article
Unbalanced Whole-Arm Translocation der(18;21)(q10;q10) in Hematological Malignancies.
- Published in:
- Journal of the Association of Genetic Technologists, 2020, v. 46, n. 3, p. 141
- By:
- Publication type:
- Article
Letter of retraction.
- Published in:
- Prenatal Diagnosis, 1990, v. 10, n. 8, p. 549, doi. 10.1002/pd.1970100815
- By:
- Publication type:
- Article
Conceiving a fetus for bone marrow donation: an ethical problem in prenatal diagnosis.
- Published in:
- 1989
- By:
- Publication type:
- journal article