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Items: 12

Select item 66720261.

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

Kirsten E. Craddock, Volkan Okur, Ashley Wilson, Erica H. Gerkes, Keri Ramsey, Jennifer M. Heeley, Jane Juusola, Antonio Vitobello, Marie-Noelle Bonnet Dupeyron, Laurence Faivre, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004200. doi: 10.1101/mcs.a004200

PMCID:: PMC6672026

Abstract Article PDF–2.7M

Select item 40153522.

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Johanna Christina Czeschik, Peter Bauer, Karin Buiting, Claudia Dufke, Encarna Guillén-Navarro, Diana S Johnson, Udo Koehler, Vanesa López-González, Hermann-Josef Lüdecke, Alison Male, Deborah Morrogh, Angelika Rieß, Andreas Tzschach, Dagmar Wieczorek, Alma Kuechler

Orphanet J Rare Dis. 2013; 8: 146. Published online 2013 Sep 21. doi: 10.1186/1750-1172-8-146

PMCID:: PMC4015352

Abstract Article PDF–1.8M

Select item 26106473.

Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization

Yong Beom Shin, Sang Ook Nam, Eul-Ju Seo, Hyung-Hoi Kim, Chulhun L. Chang, Eun-Yup Lee, Han-Chul Son, Sang-Hyun Hwang

J Korean Med Sci. 2008 Dec; 23(6): 1097–1101. Published online 2008 Dec 24. doi: 10.3346/jkms.2008.23.6.1097

PMCID:: PMC2610647

Abstract Article PDF–544K

Select item 10491884.

De novo duplication of the 7q11 leads to q22 region.

N B Kardon, L Pollack, J Davis, A Broekman, M Krauss

J Med Genet. 1983 Dec; 20(6): 471–473. doi: 10.1136/jmg.20.6.471

PMCID:: PMC1049188

Summary Page Browse PDF–447K

Select item 10136405.

A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy.

A G Hunter, P J McAlpine, N L Rudd, F C Fraser

J Med Genet. 1977 Dec; 14(6): 430–437. doi: 10.1136/jmg.14.6.430

PMCID:: PMC1013640

Summary Page Browse PDF–1.6M

Select item 79302186.

Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature

Yu Hu, XinDong Xue, JianHua Fu

Front Pediatr. 2021; 9: 633532. Published online 2021 Feb 18. doi: 10.3389/fped.2021.633532

PMCID:: PMC7930218

Abstract Article PDF–163K

Select item 65541757.

Consensus Opinions on Facial Beauty and Implications for Aesthetic Treatment in Middle Eastern Women

Mohamad Kashmar, Mohammed A. Alsufyani, Fariba Ghalamkarpour, Micheline Chalouhi, Ghanima Alomer, Sahar Ghannam, Hisham El Minawi, Babek Saedi, Nahla Hunter, Abeer Alkobaisi, Karim Rafla, Shadi Zari, Mohamed Abdel Razzak Elsayed, Firas Hamdan, Samantha Santangelo, Mohamed Khater, John D. Rogers

Plast Reconstr Surg Glob Open. 2019 Apr; 7(4): e2220. Published online 2019 Apr 25. doi: 10.1097/GOX.0000000000002220

PMCID:: PMC6554175

Abstract Article PDF–755K

Select item 61438688.

De novo unbalanced translocation t(15;22)(q26.2;q12) with velo-cardio-facial syndrome: A case report and review of the literature

Cristina Gug, Delia Huțanu, Monica Vaida, Gabriela Doroş, Cristina Popa, Ramona Stroescu, Gheorghe Furău, Cristian Furău, Laura Grigoriță, Ioana Mozos

Exp Ther Med. 2018 Oct; 16(4): 3589–3595. Published online 2018 Aug 16. doi: 10.3892/etm.2018.6609