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UnknownPallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.
Not available
S-EPMC8226674 | biostudies-literature
UnknownNovel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.
Not available
S-EPMC6389258 | biostudies-literature
UnknownCase Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin.
Not available
S-EPMC8965074 | biostudies-literature
TranscriptomicsOvarian gene expression in the absence of FIGLA, an oocyte specific transcription factor
Ovarian folliculogenesis in mammals is a complex process involving cross talk between germ and somatic cells. Carefully orchestrated expression of transcription factors, cell adhesion molecules and growth factors are required for success. We have identified a germ-cell specific, basic helix-loop-hel...
ORGANISM(S): Mus musculus 
2007-09-07 | E-GEOD-5802 | biostudies-arrayexpress
UnknownPrenatal diagnosis of Pallister-Killian syndrome using cord blood samples.
Not available
S-EPMC6717365 | biostudies-literature
UnknownCo-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.
Not available
S-EPMC10425716 | biostudies-literature
MetabolomicsMapping the biosynthetic pathway of a hybrid polyketide-nonribosomal peptide in a metazoan
Polyketide synthase (PKS) and nonribosomal peptide synthetase (NRPS) hybrid systems typically use complex protein-protein interactions to facilitate direct transfer of intermediates between these multimodular megaenzymes. In the canal-associated neurons (CANs) of Caenorhabditis elegans, PKS-1 and NR...
2021-06-22 | MTBLS2313 | MetaboLights
UnknownUse of dietary indices to control for diet in human gut microbiota studies.
Not available
S-EPMC5918560 | biostudies-literature
TranscriptomicsTranscription profiling of human hypothalamic hamartomas (HH) obtained from patients with or without precocious puberty (CPP)
Hypothalamic hamartomas (HHs) are congenital lesions of the neuroendocrine brain composed of neurons and astroglia. Frequently, HHs are associated with central precocious puberty (CPP) and/or gelastic seizures. Because HHs might express genes similar to those required for the initiation of normal pu...
ORGANISM(S): Homo sapiens 
2008-06-15 | E-GEOD-7142 | biostudies-arrayexpress
UnknownCompound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
Not available
S-EPMC5495032 | biostudies-literature
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