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Journal Abstract Search

184 related items for PubMed ID: 22473152

  • 21. Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes.
    Shen JJ.
    Clin Dysmorphol; 2015 Apr; 24(2):55-60. PubMed ID: 25629734
    [Abstract] [Full Text] [Related]

  • 22. Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.
    Oudesluijs G, Simon ME, Burggraaf RH, Waterham HR, Hennekam RC.
    Am J Med Genet A; 2012 Feb; 158A(2):292-7. PubMed ID: 22140078
    [Abstract] [Full Text] [Related]

  • 23. Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome.
    Kishimoto K, Kobayashi R, Yonemaru N, Yamamoto H, Tsujioka T, Sano H, Suzuki D, Yasuda K, Suzuki M, Ando A, Tonoki H, Iizuka S, Uetake K, Kobayashi K.
    J Pediatr Hematol Oncol; 2015 May; 37(4):e238-41. PubMed ID: 25171454
    [Abstract] [Full Text] [Related]

  • 24. "Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.
    Hamilton MJ, Suri M.
    Adv Genet; 2020 May; 105():137-174. PubMed ID: 32560786
    [Abstract] [Full Text] [Related]

  • 25. 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
    Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ.
    Hum Genet; 2015 Oct; 134(10):1089-97. PubMed ID: 26264464
    [Abstract] [Full Text] [Related]

  • 26. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
    Filges I, Shimojima K, Okamoto N, Röthlisberger B, Weber P, Huber AR, Nishizawa T, Datta AN, Miny P, Yamamoto T.
    J Med Genet; 2011 Feb; 48(2):117-22. PubMed ID: 21037274
    [Abstract] [Full Text] [Related]

  • 27. Phenotype-genotype complexities: opening DOORS.
    Berkovic SF, Gecz J.
    Lancet Neurol; 2014 Jan; 13(1):24-5. PubMed ID: 24291219
    [No Abstract] [Full Text] [Related]

  • 28. PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
    Salian S, Benkerroum H, Nguyen TTM, Nampoothiri S, Kinoshita T, Félix TM, Stewart F, Sisodiya SM, Murakami Y, Campeau PM.
    Hum Genet; 2021 Jun; 140(6):879-884. PubMed ID: 33386993
    [Abstract] [Full Text] [Related]

  • 29. SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub.
    Piazza R, Magistroni V, Redaelli S, Mauri M, Massimino L, Sessa A, Peronaci M, Lalowski M, Soliymani R, Mezzatesta C, Pirola A, Banfi F, Rubio A, Rea D, Stagno F, Usala E, Martino B, Campiotti L, Merli M, Passamonti F, Onida F, Morotti A, Pavesi F, Bregni M, Broccoli V, Baumann M, Gambacorti-Passerini C.
    Nat Commun; 2018 Jun 06; 9(1):2192. PubMed ID: 29875417
    [Abstract] [Full Text] [Related]

  • 30. Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
    Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R.
    Eur J Hum Genet; 2012 Oct 06; 20(10):1024-31. PubMed ID: 22473091
    [Abstract] [Full Text] [Related]

  • 31. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
    Gripp KW, Smithson SF, Scurr IJ, Baptista J, Majumdar A, Pierre G, Williams M, Henderson LB, Wentzensen IM, McLaughlin H, Leeuwen L, Simon MEH, van Binsbergen E, Dinulos MBP, Kaplan JD, McRae A, Superti-Furga A, Good JM, Kutsche K.
    Eur J Hum Genet; 2021 Sep 06; 29(9):1384-1395. PubMed ID: 33594261
    [Abstract] [Full Text] [Related]

  • 32. A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly.
    Turkkahraman D, Sakarya ANP, Randa NC.
    Am J Med Genet A; 2021 Jul 06; 185(7):2234-2237. PubMed ID: 33788986
    [No Abstract] [Full Text] [Related]

  • 33. Clinical and radiological findings in Schinzel-Giedion syndrome.
    Al-Mudaffer M, Oley C, Price S, Hayes I, Stewart A, Hall CM, Reardon W.
    Eur J Pediatr; 2008 Dec 06; 167(12):1399-407. PubMed ID: 18461363
    [Abstract] [Full Text] [Related]

  • 34. Applications of next-generation whole exome sequencing.
    Harding KE, Robertson NP.
    J Neurol; 2014 Jun 06; 261(6):1244-6. PubMed ID: 24838538
    [No Abstract] [Full Text] [Related]

  • 35.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 36. Weaver syndrome and defective cortical development: a rare association.
    Al-Salem A, Alshammari MJ, Hassan H, Alazami AM, Alkuraya FS.
    Am J Med Genet A; 2013 Jan 06; 161A(1):225-7. PubMed ID: 23239504
    [No Abstract] [Full Text] [Related]

  • 37. Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.
    Okamoto N, Ehara E, Tsurusaki Y, Miyake N, Matsumoto N.
    Congenit Anom (Kyoto); 2018 May 06; 58(3):105-107. PubMed ID: 28787104
    [Abstract] [Full Text] [Related]

  • 38. Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
    Narumi-Kishimoto Y, Araki N, Migita O, Kawai T, Okamura K, Nakabayashi K, Kaname T, Ozawa Y, Ozawa H, Takada F, Hata K.
    Eur J Med Genet; 2019 Sep 06; 62(9):103547. PubMed ID: 30267900
    [No Abstract] [Full Text] [Related]

  • 39. DOOR syndrome: A case report and its embryological basis.
    Santos M, Reis-Rego Â, Coutinho M, Almeida E Sousa C.
    Int J Pediatr Otorhinolaryngol; 2019 Feb 06; 117():57-60. PubMed ID: 30579089
    [Abstract] [Full Text] [Related]

  • 40. Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
    Ivanovski I, Akbaroghli S, Pollazzon M, Gelmini C, Caraffi SG, Mansouri M, Chavoshzadeh Z, Rosato S, Polizzi V, Gargano G, Alders M, Garavelli L, Hennekam RC.
    Am J Med Genet A; 2018 May 06; 176(5):1166-1174. PubMed ID: 29681106
    [Abstract] [Full Text] [Related]

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