80 related articles for article (PubMed ID: 32707268)
21. PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review.
Fang Z; Hu C; Zhou S; Yu L
Neurol Sci; 2024 May; 45(5):2253-2260. PubMed ID: 38055078
[TBL] [Abstract][Full Text] [Related]
22. A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
Mir A; Song Y; Lee H; Montazer-Zohouri M; Reisi M; Tabatabaiefar MA
Mol Genet Genomic Med; 2023 Dec; 11(12):e2261. PubMed ID: 37496384
[TBL] [Abstract][Full Text] [Related]
23. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Alhaddad B; Schossig A; Haack TB; Kovács-Nagy R; Braunisch MC; Makowski C; Senderek J; Vill K; Müller-Felber W; Strom TM; Krabichler B; Freisinger P; Deshpande C; Polster T; Wolf NI; Desguerre I; Wörmann F; Rötig A; Ahting U; Kopajtich R; Prokisch H; Meitinger T; Feichtinger RG; Mayr JA; Jungbluth H; Hubmann M; Zschocke J; Distelmaier F; Koch J
Neuropediatrics; 2018 Oct; 49(5):330-338. PubMed ID: 29940663
[TBL] [Abstract][Full Text] [Related]
24. New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.
Kılıç E; Koşukcu C
Am J Med Genet A; 2024 Mar; 194(3):e63449. PubMed ID: 37876348
[TBL] [Abstract][Full Text] [Related]
25. Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.
Cingöz S; Soydemir D; Öner TÖ; Karaca E; Özden B; Kurul SH; Bayram E; ; Coe BP; Nickerson DA; Eichler EE
Eur J Med Genet; 2022 Jun; 65(6):104497. PubMed ID: 35430327
[TBL] [Abstract][Full Text] [Related]
26. A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.
Özmansur EN; Pedük Y; Gümüş H; Çağlayan AO; Per H
Clin Dysmorphol; 2022 Jan; 31(1):36-38. PubMed ID: 34538860
[No Abstract] [Full Text] [Related]
27. Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel
Gabaldon-Albero A; Cordon L; Sempere A; Pedrola L; Martin-Grau C; Oltra S; Monfort S; Caro-Llopis A; Dominguez-Martinez M; Hernandez-Muela S; Rosello M; Orellana C; Martinez F
Genes (Basel); 2024 Jun; 15(6):. PubMed ID: 38927738
[TBL] [Abstract][Full Text] [Related]
28. Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
Hu X; Guo R; Hao C; Hao L
Gene; 2024 Feb; 894():147985. PubMed ID: 37956963
[TBL] [Abstract][Full Text] [Related]
29. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Sczakiel HL; Zhao M; Wollert-Wulf B; Danyel M; Ehmke N; Stoltenburg C; Damseh N; Al-Ashhab M; Balci TB; Osmond M; Andrade A; Schallner J; Porrmann J; McDonald K; Liao M; Oppermann H; Platzer K; Dierksen N; Mojarrad M; Eslahi A; Bakaeean B; Calame DG; Lupski JR; Firoozfar Z; Seyedhassani SM; Mohammadi SA; Anwaar N; Rahman F; Seelow D; Janz M; Horn D; Maroofian R; Boschann F
Eur J Hum Genet; 2023 Aug; 31(8):905-917. PubMed ID: 37188825
[TBL] [Abstract][Full Text] [Related]
30. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE; Kortüm F; Korenke GC; Alawi M; Santer R; Woidy M; Buhas D; Fox S; Juusola J; Alfadhel M; Webb BD; Coci EG; Abou Jamra R; Siekmeyer M; Biskup S; Heller C; Maier EM; Javaher-Haghighi P; Bedeschi MF; Ajmone PF; Iascone M; Peeters H; Ballon K; Jaeken J; Rodríguez Alonso A; Palomares-Bralo M; Santos-Simarro F; Meuwissen MEC; Beysen D; Kooy RF; Houlden H; Murphy D; Doosti M; Karimiani EG; Mojarrad M; Maroofian R; Noskova L; Kmoch S; Honzik T; Cope H; Sanchez-Valle A; ; Gelb BD; Kurth I; Hempel M; Kutsche K
Brain; 2020 Aug; 143(8):2437-2453. PubMed ID: 32761064
[TBL] [Abstract][Full Text] [Related]
31. The Mutation of CD27 Deficiency Presented With Familial Hodgkin Lymphoma and a Review of the Literature.
Köse D; Güzelçiçek A; Öz Ö; Erdem AY; Haliloğlu Y; Witzel M; Klein C; Ünal E
J Pediatr Hematol Oncol; 2022 May; 44(4):e833-e843. PubMed ID: 35398861
[TBL] [Abstract][Full Text] [Related]
32. CK syndrome: a rare cause of developmental delay in a young boy.
Garg M; Kulkarni SD; Sayed R; Hegde AU
Clin Dysmorphol; 2021 Oct; 30(4):201-203. PubMed ID: 34091503
[TBL] [Abstract][Full Text] [Related]
33. Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.
do Rosario MC; Kaur P; Girisha KM; Bielas S; Shukla A
Clin Dysmorphol; 2022 Oct; 31(4):196-200. PubMed ID: 35445667
[No Abstract] [Full Text] [Related]
34. [Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by
Chen QR; Zhang ZJ; Lu YX; Yuan SB; Li J
Zhongguo Dang Dai Er Ke Za Zhi; 2023 Dec; 25(12):1276-1281. PubMed ID: 38112147
[TBL] [Abstract][Full Text] [Related]
35. Vignette of a Child with Developmental Regression, Seizures, and Combined Disorders of Movement.
Radmard S; Bassetti JA; Mandel AM; Katus L
Mov Disord Clin Pract; 2024 Jun; ():. PubMed ID: 38881042
[No Abstract] [Full Text] [Related]
36. Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S; De Liso P; Freri E; Costa P; Castellotti B; Magri S; Gellera C; Granata T; Musante L; Lesca G; Oertel J; Craiu D; Hammer TB; Møller RS; Barisic N; Abou Jamra R; Polster T; Vigevano F; Marini C
Epilepsia; 2020 Nov; 61(11):2474-2485. PubMed ID: 33063863
[TBL] [Abstract][Full Text] [Related]
37. Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.
Hadouiri N; Darmency V; Guibaud L; Arzimanoglou A; Sorlin A; Carmignac V; Rivière JB; Huet F; Luu M; Bardou M; Thauvin-Robinet C; Vabres P; Faivre L
Eur J Med Genet; 2020 Nov; 63(11):104036. PubMed ID: 32805448
[TBL] [Abstract][Full Text] [Related]
38. Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.
Pons L; Sabatier I; Alix E; Faoucher M; Labalme A; Sanlaville D; Lesca G
Eur J Med Genet; 2020 Oct; 63(10):103994. PubMed ID: 32707268
[TBL] [Abstract][Full Text] [Related]
39. Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
Martín-Grau C; Orellana Alonso C; Roselló Piera M; Pedrola Vidal L; Llorens-Salvador R; Quiroga R; Marín Reina P; Rubio Moll JS; Gómez Portero R; Martínez-Castellano F
Clin Genet; 2023 Aug; 104(2):245-250. PubMed ID: 37125481
[TBL] [Abstract][Full Text] [Related]
40. Mutations in the phosphatidylinositol glycan C (
Edvardson S; Murakami Y; Nguyen TT; Shahrour M; St-Denis A; Shaag A; Damseh N; Le Deist F; Bryceson Y; Abu-Libdeh B; Campeau PM; Kinoshita T; Elpeleg O
J Med Genet; 2017 Mar; 54(3):196-201. PubMed ID: 27694521
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
