39 results on '"Saal, Howard"'
Search Results
2. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey
3. ROBIN SEQUENCE
4. Prenatal diagnosis of Proteus syndrome: Diagnosis of anAKT1mutation from amniocytes
5. Systemic and ocular manifestations of a patient with mosaicARID1A‐associated Coffin‐Sirissyndrome and review of select mosaic conditions with ophthalmic manifestations
6. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
7. Using human sequencing to guide craniofacial research
8. Decision Making for Children with Obstructive Sleep Apnea without Tonsillar Hypertrophy
9. A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene
10. Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia
11. Cost Analysis of Mandibular Distraction versus Tracheostomy in Neonates with Pierre Robin Sequence
12. Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness
13. Neonates with Tongue‐Based Airway Obstruction
14. Robin Sequence
15. A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis
16. Interstitial deletion of 13q associated with polymicrogyria
17. Russell‐Silver Syndrome
18. Epidemiology of hemimegalencephaly: A case series and review
19. Valproate embryopathy: Clinical and cognitive profile in 5 siblings
20. Dilated ascending aorta in a child with ring chromosome 21 syndrome
21. Upper airway malformation associated with partial trisomy 11q
22. Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history
23. Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome
24. Progressive laryngotracheal stenosis with short stature and arthropathy
25. Ullrich-Turner syndrome and neurofibromatosis-1
26. Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2
27. PRENATAL DIAGNOSIS OF RING CHROMOSOME 6 IN A FETUS WITH HYDROCEPHALUS
28. Patient with craniosynostosis and marfanoid phenotype (Shprintzen-goldberg syndrome) and cloverleaf skull
29. Airway obstruction in the pierre robin sequence
30. Brachmann‐de Lange syndrome with normal IQ
31. PHAVER syndrome: An autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects
32. Cystic hygroma and congenital diaphragmatic hernia: Early prenatal sonographic evaluation of Fryns' syndrome
33. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
34. New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters
35. Dominant syndrome with isolated cryptophthalmos and ocular anomalies
36. Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies
37. Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review
38. Decision Making for Children with Obstructive Sleep Apnea without Tonsillar Hypertrophy.
39. Neonates with tongue-based airway obstruction: a systematic review.
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