MMG PUBLICATIONS

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Results: 4196  publications found.

whether a direct causal relationship exists between these variables., .  et al. 0

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, .  et al. 0

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Am J Hum Genet. 2025 Jan 2, .  et al. 0

Sabeh P

10.1016/j.ajhg.2024.11.009
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, .  et al. 0

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Manuela, .  et al. 0

Richard; Ramelli

Angelika; Sanchez-Valle
Aida; Thiffault - issue: Katharina; Syrbe - volume: Steffen; Taylor - pages: Thomas; Srour.


whereas the third missense variant directly influenced the cis-dimerization interface of PCDHGC4. CONCLUSION: We show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans., .  et al. 0

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L., .  et al. 0

P.; Leroux

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, .  et al. 0

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Genet Med. 2025 Apr, .  et al. 0

Cali E

10.1016/j.gim.2024.101251
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L., .  et al. 0

C.; Cardoso

spastic paraplegia and skewed pattern of X inactivation;;;;;;;eng;;;;;PubMed;;PMID: 10417298 PMCID: PMC1377954
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hypotonia, .  et al. 0

functional gastrointestinal abnormalities

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this study, .  et al. 0

through secretomic analysis

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M., .  et al. 0

P.; Villard

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Proud V, .  et al. 0

Chiaroni P

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Epilepsia. 2024 May, .  et al. 0

Cetica V

10.1111/epi.17939
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A. M., .  et al. 0

M.; Colleaux

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, .  et al. 0

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p.(Thr493Asn) and p.(Gly496Arg), .  et al. 0

were located in the transmembrane domains S3 and S6 of Kv10.1 and one

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Al Aqeel AI, .  et al. 0

Alhashem A

Doummar D
Issa MY - issue: Keren B - volume: Kuechler A - pages: Horn D.


Hum Mol Genet. 2024 Feb 28, .  et al. 0

Khosrowabadi E

10.1093/hmg/ddad203
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