نتائج البحث - "Kirchhoff, Maria"

1

دورية أكاديمية

Novel clinical and radiological findings in a family with autosomal recessive omodysplasia

المؤلفون: Bayat, Allan, Dunø, Morton, Kirchhoff, Maria, Jørgensen, Finn S., Nishimura, Gen, Hove, Hanne B.

المصدر: Bayat , A , Dunø , M , Kirchhoff , M , Jørgensen , F S , Nishimura , G & Hove , H B 2020 , ' Novel clinical and radiological findings in a family with autosomal recessive omodysplasia ' , Molecular Syndromology , vol. 11 , no. 2 , pp. 83-89 . https://doi.org/10.1159/000506384Test

مصطلحات موضوعية: GPC6, Omodysplasia, Radiological feature, Recessive omodysplasia, Skeletal dysplasia

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/b088c581-bbc0-4dc5-888d-22da09399708Test

الإتاحة: https://doi.org/10.1159/000506384Test
https://portal.findresearcher.sdu.dk/da/publications/b088c581-bbc0-4dc5-888d-22da09399708Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325126/pdf/msy-0011-0083.pdfTest

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2

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

المصدر: Clinical Genetics. 82(3):248-255

مصطلحات موضوعية: ARID1B, autism spectrum disorder, chromosome 6q25, corpus callosum, intellectual disability, next-generation mate-pair sequencing, speech impairment, translocation

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-5351Test
https://doi.org/10.1111/j.1399-0004.2011.01755.xTest
https://mau.diva-portal.org/smash/get/diva2:1402206/FULLTEXT01.pdfTest

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3

دورية أكاديمية

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

المصدر: Halgren , C , Nielsen , N M , Nazaryan-Petersen , L , Silahtaroglu , A , Collins , R L , Lowther , C , Kjaergaard , S , Frisch , M , Kirchhoff , M , Brøndum-Nielsen , K , Lind-Thomsen , A , Mang , Y , El-Schich , Z , Boring , C A , Mehrjouy , M M , Jensen , P K A , Fagerberg , C , Krogh , L N , Hansen , J , Bryndorf , T , Hansen , C , Talkowski , M E , Bak , M ....

مصطلحات موضوعية: balanced chromosomal rearrangement, clinical recommendations, de novo, inversion, long-term follow-up, mate-pair mapping, morbidity risk, neurodevelopmental/-psychiatric disorders, prenatal diagnosis, reciprocal translocation

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.04.005Test
https://pure.au.dk/portal/da/publications/risks-and-recommendations-in-prenatally-detected-de-novo-balanced-chromosomal-rearrangements-from-assessment-of-longterm-outcomesTest(3ac989e6-79b4-422c-ae3c-b9533476dd29).html
http://www.scopus.com/inward/record.url?scp=85047187634&partnerID=8YFLogxKTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992120/pdf/main.pdfTest

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4

دورية أكاديمية

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

المؤلفون: Singh, Ram, Cohen, Ana S.A, Poulton, Cathryn, Hjortshøj, Tina Duelund, Akahira-Azuma, Moe, Mendiratta, Geetu, Khan, Wahab A, Azmanov, Dimitar N, Woodward, Karen J, Kirchhoff, Maria, Shi, Lisong, Edelmann, Lisa, Baynam, Gareth, Scott, Stuart A, Jabs, Ethylin Wang

المصدر: Medical Papers and Journal Articles

مصطلحات موضوعية: congenital strabismus, craniosynostosis, intellectual disability, macrocephaly at birth, global developmental delay, widely patent coronal suture, Medicine and Health Sciences

العلاقة: https://researchonline.nd.edu.au/med_article/1275Test

الإتاحة: https://researchonline.nd.edu.au/med_article/1275Test

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5

دورية أكاديمية

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

المؤلفون: Bartholdi, Deborah, Stray-Pedersen, Asbjørg, Azzarello-Burri, Silvia, Kibaek, Maria, Kirchhoff, Maria, Oneda, Beatrice, Rødningen, Olaug, Schmitt-Mechelke, Thomas, Rauch, Anita, Kjaergaard, Susanne

المصدر: Bartholdi, Deborah; Stray-Pedersen, Asbjørg; Azzarello-Burri, Silvia; Kibaek, Maria; Kirchhoff, Maria; Oneda, Beatrice; Rødningen, Olaug; Schmitt-Mechelke, Thomas; Rauch, Anita; Kjaergaard, Susanne (2014). A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. American Journal of Medical Genetics. Part A, 164A(5):1277-1283.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics(clinical), Genetics

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/99949/1/Bartholdi%20et%20al,%20A%20newly%20recognized%2013q12.3%20microdeletion.pdfTest; info:pmid/24664804; urn:issn:1552-4825

الإتاحة: https://doi.org/10.5167/uzh-9994910.1002/ajmg.a.36439Test
https://www.zora.uzh.ch/id/eprint/99949Test/
https://www.zora.uzh.ch/id/eprint/99949/1/Bartholdi%20et%20al,%20A%20newly%20recognized%2013q12.3%20microdeletion.pdfTest

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