"Craniofacial Abnormalities Complications Physiopathology" OR "Female" OR "Hand Deformities" OR "Congenital Complications Physiopathology" OR "Hearing Loss" OR "Sensorineural Complications Physiopathology" OR "Humans" OR "Intellectual Disability Comp - Search Results

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Quoted phrases not found in phrase index: "Craniofacial Abnormalities Complications Physiopathology", "Sensorineural Complications Physiopathology", "Intellectual Disability Complications Physiopathology", "Malformed Complications Physiopathology", "Parkinsonian Disorders Etiology Physiopathology", "Priority Journal", "Syndrome Door"

Page 1

Down syndrome as a cause of abnormalities in the craniofacial region: A systematic literature review.

Kaczorowska N, Kaczorowski K, Laskowska J, Mikulewicz M. Kaczorowska N, et al. Adv Clin Exp Med. 2019 Nov;28(11):1587-1592. doi: 10.17219/acem/112785. Adv Clin Exp Med. 2019. PMID: 31778604 Free article.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245513 Free PMC article.

Myhre syndrome.

Le Goff C, Michot C, Cormier-Daire V. Le Goff C, et al. Clin Genet. 2014 Jun;85(6):503-13. doi: 10.1111/cge.12365. Epub 2014 Apr 2. Clin Genet. 2014. PMID: 24580733 Review.

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Glinton KE, et al. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. Am J Med Genet A. 2021. PMID: 33522091 Free PMC article.

Mowat-Wilson syndrome.

Mowat DR, Wilson MJ, Goossens M. Mowat DR, et al. J Med Genet. 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305. J Med Genet. 2003. PMID: 12746390 Free PMC article. Review.

Dyskeratosis congenita.

Dokal I. Dokal I. Hematology Am Soc Hematol Educ Program. 2011;2011:480-6. doi: 10.1182/asheducation-2011.1.480. Hematology Am Soc Hematol Educ Program. 2011. PMID: 22160078 Review.

BM failure is the principal cause of premature mortality. Studies over the last 15 years have led to significant advances, with 8 DC genes (DKC1, TERC, TERT, NOP10, NHP2, TIN2, C16orf57, and TCAB1) having been characterized. ...

BM failure is the principal cause of premature mortality. Studies over the last 15 years have led to significant advances, with 8 DC …

Oral Structural Dysphagia in Children.

Eapen RP, Drake AF, Keane A. Eapen RP, et al. Otolaryngol Clin North Am. 2024 Aug;57(4):551-557. doi: 10.1016/j.otc.2024.02.012. Epub 2024 Mar 19. Otolaryngol Clin North Am. 2024. PMID: 38503668 Review.

Postural & striatal deformities in Parkinson`s disease: Are these rare?

Pandey S, Garg H. Pandey S, et al. Indian J Med Res. 2016 Jan;143(1):11-7. doi: 10.4103/0971-5916.178577. Indian J Med Res. 2016. PMID: 26997007 Free PMC article. Review.

Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the patients. Patients with PD may have stooped posture but some of them develop different types of postura …

Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosi …

Developmental trajectories in 22q11.2 deletion.

Swillen A, McDonald-McGinn D. Swillen A, et al. Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):172-81. doi: 10.1002/ajmg.c.31435. Epub 2015 May 18. Am J Med Genet C Semin Med Genet. 2015. PMID: 25989227 Free PMC article. Review.

Editorial brain malformation surveillance in the Zika era.

Trevathan E. Trevathan E. Birth Defects Res A Clin Mol Teratol. 2016 Nov;106(11):869-874. doi: 10.1002/bdra.23582. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27891785 Free PMC article.

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