Results 21 -
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168
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Child syndrome
- ... diagnosed with the condition. However, parents of one child with Beckwith-Wiedemann syndrome may be at risk of having other children ...
- ... a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol. 2011 Oct;7(5):569- ...
- ... 8 inversion are at of risk having a child with recombinant 8 syndrome. Rec(8) syndrome Recombinant chromosome 8 syndrome San ...
- ... until after the disorder is recognized in the child. 7q11.23 microduplication syndrome Chromosome 7q11.23 duplication Chromosome 7q11.23 duplication ...
- ... premutation have an increased risk of having a child with fragile XE syndrome. In people with 31-60 CCG repeats, the ...
- ... a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol. 2011 Oct;7(5):569- ...
- ... part of the spectrum of brain-thyroid-lung syndrome. J Child Neurol. 2014 May;29(5):666-9. doi: 10.1177/0883073813518243. Epub 2014 Jan 21. Citation on PubMed
- ... of Function Epilepsy Distinct From Cornelia de Lange Syndrome. J Child Neurol. 2022 Apr;37(5):390-396. doi: 10.1177/08830738221081244. Epub 2022 Mar 3. Citation on PubMed Borck ... Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat. 2007 Feb; ...
- ... percentage of parents with the inversion have a child affected by Koolen-de Vries syndrome. More About This Health Condition Miller-Dieker syndrome ...
- ... 2. Citation on PubMed Wakeling EL. Silver-Russell syndrome. Arch Dis Child. 2011 Dec;96(12):1156-61. doi: 10.1136/adc.2010.190165. Epub 2011 Feb 24. Citation on PubMed