Found: 33
Select item for more details and to access through your institution.
50<sup>th</sup> Genetics Corner: A Patient with CHARGE Syndrome Illustrates the Parable of the Six Blind Men and the Elephant.
- Published in:
- Neonatology Today, 2022, v. 17, n. 6, p. 142, doi. 10.51362/neonatology.today/2022176142145
- 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: Donohue Syndrome in a Small for Gestational Age Infant with Hyperinsulinemia.
- Published in:
- Neonatology Today, 2022, v. 17, n. 3, p. 146, doi. 10.51362/neonatology.today/2022173146150
- By:
- Publication type:
- Article
Genetics Corner: Alpha Thalassemia X-Linked Intellectual Disability Syndrome in an Infant with Developmental Delay and DYS Recurrent Respiratory Failure Confirmed by Whole-Exome Sequencing.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
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: An Infant with Amyoplasia Limited to the Upper Extremities.
- Published in:
- Neonatology Today, 2021, v. 16, n. 2, p. 113, doi. 10.51362/neonatology.today/20212162113116
- By:
- Publication type:
- Article
Preparation of 1,3-disubstituted isoquinoline derivatives from N-boc-3-substituted-1,2-dihydroisoquinolines.
- Published in:
- Journal of Heterocyclic Chemistry, 1995, v. 32, n. 1, p. 81, doi. 10.1002/jhet.5570320115
- By:
- Publication type:
- Article
Stereospecific synthesis of the (3aα,11α,12aα)-decahydrobenzo[ a]pyrrolo[3,2- g]quinolizine ring system.
- Published in:
- Journal of Heterocyclic Chemistry, 1993, v. 30, n. 3, p. 829, doi. 10.1002/jhet.5570300338
- By:
- Publication type:
- Article
Some observations on the formation of 1-hydroxyindoles in the leimgruber-batcho indole synthesis.
- Published in:
- Journal of Heterocyclic Chemistry, 1985, v. 22, n. 1, p. 121, doi. 10.1002/jhet.5570220130
- By:
- Publication type:
- Article
Synthesis of 4-(4-Alkyl-2-morpholinyl)indoles.
- Published in:
- Journal of Heterocyclic Chemistry, 1983, v. 20, n. 5, p. 1393, doi. 10.1002/jhet.5570200545
- By:
- Publication type:
- Article
Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6.
- Published in:
- Journal of Investigative Dermatology, 1999, v. 113, n. 2, p. 0, doi. 10.1046/j.1523-1747.1999.00685.x
- By:
- Publication type:
- Article
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
- Published in:
- Nature Genetics, 2007, v. 39, n. 4, p. 451, doi. 10.1038/ng1992
- By:
- Publication type:
- Article
An Infant with Netherton Syndrome and Persistent Pulmonary Hypertension Requiring Extracorporeal Membrane Oxygenation.
- Published in:
- Pediatric Dermatology, 2008, v. 25, n. 3, p. 368, doi. 10.1111/j.1525-1470.2008.00685.x
- 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
Apparent non-mosaic trisomy 16 in chorionic villi: diagnostic dilemma or clinically significant finding?
- Published in:
- 1992
- By:
- Publication type:
- journal 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
Detection of mosaic RB1 mutations in families with retinoblastoma.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 842, doi. 10.1002/humu.20940
- By:
- Publication type:
- Article
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: Severe Clinical Course and Fatal Outcome in a Premature Female Infant with Filamin A (FLNA)-Associated Periventricular Heterotopia.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Clinical Pearl: Fentanyl Exposure Syndrome.
- Published in:
- Neonatology Today, 2023, v. 18, n. 12, p. 189
- By:
- Publication type:
- Article
A Newborn with Cloverleaf Skull and Sacrococcygeal Eversion due to a Rare FGFR2-Related Craniosynostosis Disorder: Beare-Stevenson Syndrome.
- Published in:
- Neonatology Today, 2023, v. 18, n. 9, p. 211
- By:
- Publication type:
- Article
Genetics Corner: Noonan Syndrome and Central Conducting Lymphatic Anomaly: Trametinib Treatment for Chronic Chylothorax Following Cardiovascular Surgery.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Genetics Corner: The Alternate "Backdoor" Steroidogenesis Pathway in the Placenta Links Hypospadias, Early IUGR, and Severe Placental Dysfunction.
- Published in:
- Neonatology Today, 2023, v. 18, n. 3, p. 144
- By:
- Publication type:
- Article
Genetics Corner: HACD1-Associated Congenital Myopathy in an Infant of Chaldean Ethnicity.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Genetics Corner: Familial Duodenal Atresia Due to Feingold Syndrome.
- Published in:
- Neonatology Today, 2023, v. 18, n. 1, p. 132
- By:
- Publication type:
- Article
Genetics Corner: Mild Expression of COL7A1-Associated Epidermolysis Bullosa in a Mother and Child.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Delayed diagnosis and racial bias in children with genetic conditions.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1118, doi. 10.1002/ajmg.a.62626
- By:
- Publication type:
- Article
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 595, doi. 10.1002/ajmg.a.61443
- By:
- Publication type:
- Article
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 320, doi. 10.1002/ajmg.a.35817
- By:
- Publication type:
- Article
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