35 results on '"Pivnick, Eniko K."'
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2. A Newborn Infant with Congenital Central Hypoventilation Syndrome and Pupillary Abnormalities: A Literature Review
3. Neonatal Hospital Course and Outcomes of Live-born Infants with Trisomy 18 at Two Tertiary Care Centers in the United States
4. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
5. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
6. Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
7. Trigeminal nerve agenesis with absence of foramina rotunda in Gómez–López–Hernández syndrome
8. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
9. Kagami-Ogata Syndrome: Case Series and Review of Literature
10. Wilms tumor in a patient with 22q11.2 microdeletion
11. An Infant With Erythroderma, Skin Scaling, Chronic Emesis, and Intractable Diarrhea
12. Treatment of Diffuse Basal Cell Carcinomas and Basaloid Follicular Hamartomas in Nevoid Basal Cell Carcinoma Syndrome by Wide-Area 5-Aminolevulinic Acid Photodynamic Therapy
13. Expanding the spectrum of CEP55 ‐associated disease to viable phenotypes
14. Clinical spectrum of individuals with pathogenicN F1missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
15. Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES)
16. Bony orbital morphology in neurofibromatosis type 1 (NF1)
17. Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG.
18. Rickets secondary to phosphate depletion: a sequela of antacid use in infancy
19. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
20. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
21. 269: Chondrodysplasia punctata associated with maternal hyperemesis gravidarum: A variable and potentially preventable phenotype
22. A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism
23. Trigeminal nerve agenesis with absence of foramina rotunda in Gómez–López–Hernández syndrome
24. Prospective Evaluation of the Brain in Asymptomatic Children with Neurofibromatosis Type 1: Relationship of Macrocephaly to T1 Relaxation Changes and Structural Brain Abnormalities
25. Phenocopy of Warfarin Syndrome in an Infant Born to a Mother With Sickle Cell Anemia and Severe Transfusional Iron Overload
26. The Interstitial Duplication 15q11.2‐q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature
27. Genetic Risk for Recessively Inherited Disease (Duchenne Muscular Dystrophy and Congenital Hearing Loss)
28. An Infant With Erythroderma, Skin Scaling, Chronic Emesis, and Intractable Diarrhea
29. Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1
30. Complications of the Nevoid Basal Cell Carcinoma Syndrome
31. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
32. A Newborn Infant with Congenital Central Hypoventilation Syndrome and Pupillary Abnormalities: A Literature Review.
33. Kagami-Ogata Syndrome: Case Series and Review of Literature.
34. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
35. Goltz syndrome: report of two severe cases.
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