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Results 51 - 60 of 168 for Child syndrome
  1. Rett syndrome 
    ... Citation on PubMed Percy AK, Lane JB. Rett syndrome: model of neurodevelopmental disorders. J Child Neurol. 2005 Sep;20(9):718-21. doi: 10.1177/08830738050200090301. Citation on PubMed Samaco RC, Neul JL. Complexities of Rett syndrome and MeCP2. J Neurosci. 2011 Jun 1;31( ...
    https://medlineplus.gov/genetics/condition/rett-syndrome - Genetics
  2. Laryngo-onycho-cutaneous syndrome 
    ... ML, Strobel S, Lake BD. Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect. Arch Dis Child. 1994 Apr;70(4):319-26. doi: 10.1136/adc.70.4.319. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../laryngo-onycho-cutaneous-syndrome - Genetics
  3. Rigid spine muscular dystrophy 
    ... D. Rigid spinal muscular dystrophy and rigid spine syndrome: report of 7 children. J Child Neurol. 2014 Nov;29(11):1436-40. doi: 10.1177/0883073813479173. Epub 2013 Mar 12. Citation on PubMed ... and restrictive respiratory syndrome. Nat Genet. 2001 Sep;29(1):17-8. ...
    https://medlineplus.gov/.../condition/rigid-spine-muscular-dystrophy - Genetics
  4. Joubert syndrome 
    ... D, Fennell E. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol. 1999 Jun;14(6):368-76. doi: 10.1177/088307389901400605. Citation on PubMed Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  5. LRP2 gene 
    ... Walsh CA, Donahoe PK, Pober BR. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete ...
    https://medlineplus.gov/genetics/gene/lrp2 - Genetics
  6. 22q11.2 deletion syndrome 
    ... N, Fremont W, Shprintzen RJ. 22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords. Child Neuropsychol. 2005 Feb;11(1):5-19. doi: ...
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome - Genetics
  7. CDKN2A gene 
    ... INHIBITOR 2A; CDKN2A PANCREATIC CANCER MELANOMA-PANCREATIC CANCER SYNDROME NCBI Gene ClinVar Baker DJ, Childs BG, Durik M, Wijers ME, Sieben CJ, Zhong ...
    https://medlineplus.gov/genetics/gene/cdkn2a - Genetics
  8. CYLD cutaneous syndrome 
    ... presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission. J Am Acad Dermatol. 2019 Dec;81( ...
    https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome - Genetics
  9. Chromosome 20 
    ... H, Gokben S, Ozkinay F. Ring chromosome 20 syndrome with intractable epilepsy. Dev Med Child Neurol. 2005 May;47(5):343-6. doi: ...
    https://medlineplus.gov/genetics/chromosome/20 - Genetics
  10. Moebius syndrome 
    ... Broussard AB, Borazjani JG. The faces of Moebius syndrome: recognition and anticipatory guidance. MCN Am J Matern Child Nurs. 2008 Sep-Oct;33(5):272-8; ...
    https://medlineplus.gov/genetics/condition/moebius-syndrome - Genetics
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