Found: 37
Select item for more details and to access through your institution.
Genetics Corner: A Consultation for Joint Limitations that Developed After Birth.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Genetics Corner: A Consultation for Familial Polysyndactyly.
- Published in:
- Neonatology Today, 2024, v. 19, n. 6, p. 171
- By:
- Publication type:
- Article
Genetics Corner: A Familial Variant in CDH1 Connects the Dots between Oral Clefts in Two Sisters and Gastric Cancer in their Mother.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Genetics Corner: Mild Expression of COL7A1-Associated Epidermolysis Bullosa in a Mother and Child.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Genetics Corner: A Neonatal Case of Shwachman-Diamond Syndrome with Prominent Skeletal Anomalies Diagnosed by Whole Exome Sequencing.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Genetics Corner: An Infant with a Right Congenital Diaphragmatic Hernia and a Small 1h5q26.3 Deletion with Loss of IGF1R.
- Published in:
- Neonatology Today, 2022, v. 17, n. 8, p. 149, doi. 10.51362/neonatology.today/2022178149151
- By:
- Publication type:
- Article
Genetics Corner: Klippel-Trenaunay Syndrome in an Infant with a Mosaic PIK3CA Variant, a Target for the Medical Treatment of Asymmetric Overgrowth.
- 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
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
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
The Genetics Corner: Pathogenic variants in DOCK6 mimic congenital viral infection in an SGA infant with VSD and intracranial calcifications.
- Published in:
- Neonatology Today, 2021, v. 16, n. 4, p. 124
- By:
- Publication type:
- Article
The Genetics Corner: The Positive Predictive Value of NIPT for 22q11 Deletion Syndrome Varies with the Indication.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Genetics Corner: Townes-Brocks Syndrome in an Infant with Familial Imperforate Anus.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
The Genetics Corner: Hypophosphatasia.
- Published in:
- Neonatology Today, 2020, v. 15, n. 10, p. 99, doi. 10.51362/neonatology.today/202010151099103
- By:
- Publication type:
- Article
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
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
The Genetics Corner: Perisylvian Polymicrogyria and Seizures in One of Monochorionic Diamniotic Twins Following Twin-Twin-Transfusion Syndrome and in utero Laser Ablation Therapy.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Genetics Corner: A Lethal Ciliopathy Affects Two Siblings with Renal Dysplasia and Oligohydramnios.
- Published in:
- Neonatology Today, 2020, v. 15, n. 3, p. 66
- By:
- Publication type:
- Article
Genetics Corner: A Consultation for Wolf-Hirschhorn Syndrome.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Genetics Corner: Translocation Down syndrome.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Genetics Corner: Down Syndrome Tool Kit- a Resource for Physicians Taking Care of Neonates.
- Published in:
- Neonatology Today, 2019, v. 14, n. 9, p. 83
- By:
- Publication type:
- Article
The Genetics Corner: A Consultation for Multiple Congenital Anomalies.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
The Genetics Corner: A Genetics Consultation for Agenesis Cutis Congenita and Methimazole Exposure.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
The Genetics Corner: A Genetics Evaluation for Chronic Diarrhea that Revealed Incest.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
The Genetics Corner: A Genetics Consultation for Agenesis of the Corpus Callosum and Poor Feeding.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
The Genetics Corner: A Genetics Consultation for Congenital Syphilis.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
The Genetics Corner: A Genetics Consultation for Heterotaxy.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
A genetics consultation for multiple congenital dislocations.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
A Genetics Consultation for Family History of Hearing Loss.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
The Genetics Corner: A Genetics Consultation for Microtia, ASD and IUGR.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 1, p. 29, doi. 10.1111/cga.12234
- By:
- Publication type:
- Article
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 391, doi. 10.1002/ajmg.a.34216
- By:
- Publication type:
- Article
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.
- Published in:
- BMC Medical Genetics, 2004, v. 5, p. 1
- By:
- Publication type:
- Article
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 468, doi. 10.1111/cge.14022
- By:
- Publication type:
- Article