Results 91 -
100
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168
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Child syndrome
- ... sperm cell and is found in all the child's cells.In most known cases of RTPS caused by ... fossa brain tumor syndrome Familial rhabdoid tumor Hereditary SWI/SNF deficiency syndrome ...
- ... DH. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet. 1991 Mar;48(3):584-94. Citation on PubMed or Free article on PubMed Central Guerrini R, Filippi T. Neuronal migration disorders, genetics, and epileptogenesis. J Child Neurol. 2005 Apr;20(4):287-99. doi: ...
- ... family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387. Citation on PubMed Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012 Feb;97(2):129-34. doi: 10. ...
- ... Rare Disorders (NORD) ClinicalTrials.gov ... Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral ...
- ... The phenotypic spectrum of ARX mutations. Dev Med Child Neurol. 2005 Feb;47(2):133-7. doi: ...
- ... mutations: characterization of the pediatric neurologic phenotype. J Child Neurol. 2005 Oct;20(10):852-7. doi: ...
- ... ovarian insufficiency can lead to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). ... history of the disorder in their family. Blepharophimosis syndrome Blepharophimosis, ptosis, and epicanthus inversus BPES Genetic Testing ...
- ... neural tube defects in children with caudal regression. Childs Nerv Syst. 2013 Sep;29(9):1451-7. ...
- ... comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet J Rare Dis. ... of caring for a child with the CDKL5 disorder on parental wellbeing and ...
- ... Portnoi MF. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med ... 22q11.2 in a child with autism spectrum disorder: clinical and genetic study. ...