These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

644 related items for PubMed ID: 29959045

  • 21. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
    Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ.
    Am J Hum Genet; 2019 Apr 04; 104(4):758-766. PubMed ID: 30929739
    [Abstract] [Full Text] [Related]

  • 22. [Clinical phenotype and genetic analysis of MED13L syndrome].
    Meng QJ, He XL, Xiao H, Xia Q, Bi B, Xiang Y.
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Oct 04; 19(10):1083-1086. PubMed ID: 29046205
    [Abstract] [Full Text] [Related]

  • 23. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH.
    Mol Autism; 2019 Oct 04; 10():35. PubMed ID: 31649809
    [Abstract] [Full Text] [Related]

  • 24. Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
    Zarate YA, Kalsner L, Basinger A, Jones JR, Li C, Szybowska M, Xu ZL, Vergano S, Caffrey AR, Gonzalez CV, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish JL, Everman DB.
    Clin Genet; 2017 Oct 04; 92(4):423-429. PubMed ID: 28139846
    [Abstract] [Full Text] [Related]

  • 25. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
    van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM.
    Clin Genet; 2018 May 04; 93(5):1000-1007. PubMed ID: 29393965
    [Abstract] [Full Text] [Related]

  • 26. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
    Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, Haeringen AV, Scheffner T, Debray FG, White SM, Palafoll MIV, Pfundt R, Newbury-Ecob R, Kleefstra T.
    Eur J Hum Genet; 2021 Apr 04; 29(4):625-636. PubMed ID: 33437032
    [Abstract] [Full Text] [Related]

  • 27.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 28.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 29. Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
    Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A.
    Am J Med Genet A; 2021 Apr 04; 185(4):1216-1221. PubMed ID: 33427397
    [Abstract] [Full Text] [Related]

  • 30. A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
    Imagawa E, Konuma T, Cork EE, Diaz GA, Oishi K.
    Clin Genet; 2020 Dec 04; 98(6):606-612. PubMed ID: 32812661
    [Abstract] [Full Text] [Related]

  • 31. MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
    Gordon CT, Chopra M, Oufadem M, Alibeu O, Bras M, Boddaert N, Bole-Feysot C, Nitschké P, Abadie V, Lyonnet S, Amiel J.
    Am J Med Genet A; 2018 Jan 04; 176(1):181-186. PubMed ID: 29159987
    [Abstract] [Full Text] [Related]

  • 32. Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
    Ben-Mahmoud A, Al-Shamsi AM, Ali BR, Al-Gazali L.
    J Mol Neurosci; 2020 Mar 04; 70(3):320-327. PubMed ID: 31721002
    [Abstract] [Full Text] [Related]

  • 33. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
    Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Undiagnosed Diseases Network, Campeau PM.
    Am J Hum Genet; 2019 Jan 03; 104(1):164-178. PubMed ID: 30580808
    [Abstract] [Full Text] [Related]

  • 34. Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
    Fukushi D, Yamada K, Suzuki K, Inaba M, Nomura N, Suzuki Y, Katoh K, Mizuno S, Wakamatsu N.
    Gene; 2018 May 20; 655():65-70. PubMed ID: 29477873
    [Abstract] [Full Text] [Related]

  • 35. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
    Fan Y, Yin W, Hu B, Kline AD, Zhang VW, Liang D, Sun Y, Wang L, Tang S, Powis Z, Li L, Yan H, Shi Z, Yang X, Chen Y, Wang J, Jiang Y, Tan H, Gu X, Wu L, Yu Y.
    Am J Hum Genet; 2018 Sep 06; 103(3):448-455. PubMed ID: 30122539
    [Abstract] [Full Text] [Related]

  • 36. Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.
    Maini I, Caraffi SG, Peluso F, Valeri L, Nicoli D, Laurie S, Baldo C, Zuffardi O, Garavelli L.
    Genes (Basel); 2021 Jun 10; 12(6):. PubMed ID: 34200686
    [Abstract] [Full Text] [Related]

  • 37. MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
    Plassche SV, Brouwer AP.
    Genes (Basel); 2021 Apr 28; 12(5):. PubMed ID: 33925166
    [Abstract] [Full Text] [Related]

  • 38. Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.
    Poreau B, Ramond F, Harbuz R, Satre V, Barro C, Vettier C, Adouard V, Thevenon J, Jouk PS, Coutton C, Touraine R, Dieterich K.
    Am J Med Genet A; 2019 Apr 28; 179(4):650-654. PubMed ID: 30737907
    [Abstract] [Full Text] [Related]

  • 39. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
    DeSanto C, D'Aco K, Araujo GC, Shannon N, DDD StudyWellcome Trust Sanger Institute, Cambridge, UK., Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M.
    J Med Genet; 2015 Nov 28; 52(11):754-61. PubMed ID: 26264232
    [Abstract] [Full Text] [Related]

  • 40. Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
    Luco SM, Pohl D, Sell E, Wagner JD, Dyment DA, Daoud H.
    BMC Med Genet; 2016 Feb 27; 17():15. PubMed ID: 26922654
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 33.