case report | Q2782326 |
scholarly article | Q13442814 |
P2093 | author name string | Jin-Ho Choi | |
Eul-Ju Seo | |||
Jun Suk Kim | |||
Beom Hee Lee | |||
Gu-Hwan Kim | |||
Han-Wook Yoo | |||
Ja Hyang Cho | |||
Ja Hye Kim | |||
In-Hee Choi | |||
Yoon-Myung Kim | |||
P2860 | cites work | Deletion 22q13.3 syndrome | Q21202915 |
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome) | Q24612792 | ||
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms | Q24676539 | ||
Growth in Phelan-McDermid syndrome | Q28245349 | ||
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders | Q28273097 | ||
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome | Q28306951 | ||
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders | Q36927121 | ||
The emerging role of SHANK genes in neuropsychiatric disorders | Q38152438 | ||
P275 | copyright license | Creative Commons Attribution-NonCommercial 4.0 International | Q34179348 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | Suppl 1 | |
P304 | page(s) | S25-S28 | |
P577 | publication date | 2016-11-30 | |
P1433 | published in | Korean journal of pediatrics | Q26853872 |
P1476 | title | Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms | |
P478 | volume | 59 |
Q90712113 | The copy number variation landscape of congenital anomalies of the kidney and urinary tract | cites work | P2860 |
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