Search Results - "HYLAND, JAMES" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

by Milewicz, Dianna M., Østergaard, John R., Ala-Kokko, Leena M., Khan, Nadia, Grange, Dorothy K., Mendoza-Londono, Roberto, Bradley, Timothy J., Olney, Ann Haskins, Adès, Lesley, Maher, Joseph F., Guo, Dongchuan, Buja, L. Maximilian, Kim, Dong, Hyland, James C., Regalado, Ellen S.
Published in American journal of medical genetics. Part A (01.10.2010)

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Journal Article

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

by Marini, Joan C., Forlino, Antonella, Cabral, Wayne A., Barnes, Aileen M., San Antonio, James D., Milgrom, Sarah, Hyland, James C., Körkkö, Jarmo, Prockop, Darwin J., De Paepe, Anne, Coucke, Paul, Symoens, Sofie, Glorieux, Francis H., Roughley, Peter J., Lund, Alan M., Kuurila-Svahn, Kaija, Hartikka, Heini, Cohn, Daniel H., Krakow, Deborah, Mottes, Monica, Schwarze, Ulrike, Chen, Diana, Yang, Kathleen, Kuslich, Christine, Troendle, James, Dalgleish, Raymond, Byers, Peter H.
Published in Human mutation (01.03.2007)

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Journal Article

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

by Baker, Stuart, Booth, Carol, Fillman, Corrine, Shapiro, Michael, Blair, Michael P., Hyland, James C., Ala-Kokko, Leena
Published in American journal of medical genetics. Part A (01.07.2011)

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Journal Article

A Loss of Function Mutation in the COL9A2 Gene Cause Autosomal Recessive Stickler Syndrome

A Loss of Function Mutation in the COL9A2 Gene Cause Autosomal Recessive Stickler Syndrome

by BAKER, Stuart, BOOTH, Carol, FILLMAN, Corrine, SHAPIRO, Michael, BLAIR, Michael P, HYLAND, James C, ALA-KOKKO, Leena
Published in American journal of medical genetics. Part A (01.07.2011)

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Journal Article

Similarity of geleophysic dysplasia and weill-marchesani syndrome

Similarity of geleophysic dysplasia and weill-marchesani syndrome

by Kochhar, Aaina, Kirmani, Salman, Cetta, Frank, Younge, Brian, Hyland, James C., Michels, Virginia
Published in American journal of medical genetics. Part A (01.12.2013)

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Journal Article

Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database

Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database

by Collod‐Béroud, Gwenaëlle, Le Bourdelles, Saga, Ades, Lesley, Ala‐Kokko, Leena, Booms, Patrick, Boxer, Maureen, Child, Anne, Comeglio, Paolo, De Paepe, Anne, Hyland, James C., Holman, Katerine, Kaitila, Ilkka, Loeys, Bart, Matyas, Gabor, Nuytinck, Lieve, Peltonen, Leena, Rantamaki, Terhi, Robinson, Peter, Steinmann, Beat, Junien, Claudine, Béroud, Christophe, Boileau, Catherine
Published in Human mutation (01.09.2003)

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Journal Article

Ectopia lentis as the presenting and primary feature in Marfan syndrome

Ectopia lentis as the presenting and primary feature in Marfan syndrome

by Zadeh, Neda, Bernstein, Jonathan A., Niemi, Anna Kaisa, Dugan, Sarah, Kwan, Andrea, Liang, David, Hyland, James C., Hoyme, H. Eugene, Hudgins, Louanne, Manning, Melanie A.
Published in American journal of medical genetics. Part A (01.11.2011)

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Journal Article

Democracy and Moral Autonomy

Democracy and Moral Autonomy

by Hyland, James L.
Published in Irish political studies (01.12.2011)

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Journal Article

Phase-cycling schemes for pump–probe beam geometry two-dimensional electronic spectroscopy

Phase-cycling schemes for pump–probe beam geometry two-dimensional electronic spectroscopy

by Zhang, Zhengyang, Wells, Kym Lewis, Hyland, Edward William James, Tan, Howe-Siang
Published in Chemical physics letters (22.10.2012)

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Journal Article

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother

by Wood, Kirsten A., Zambrano, Regina M., Cheek, Bradley J., Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C., Lacassie, Yves
Published in Clinical case reports (01.04.2017)

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Journal Article

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

by Hartikka, Heini, Kuurila, Kaija, Körkkö, Jarmo, Kaitila, Ilkka, Grénman, Reidar, Pynnönen, Seppo, Hyland, James C., Ala-Kokko, Leena
Published in Human mutation (01.08.2004)

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Journal Article

Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

by Fitzgerald, Kristi K., Bhat, Abdul Majeed, Conard, Katrina, Hyland, James, Pizarro, Christian
Published in Case reports in genetics (01.01.2014)

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Journal Article

Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension

Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension

by Schievink, Wouter I., Gordon, Ora K., Hyland, James C., Ala-Kokko, Leena
Published in Journal of headache and pain (01.04.2008)

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Journal Article

Democracy and Political Scepticism: Comment on Bufacchi

Democracy and Political Scepticism: Comment on Bufacchi

by Hyland, James (Eddie)
Published in Politics (Manchester, England) (01.05.2003)

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Journal Article

Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition

Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition

by Sutherell, Jamie, Zarate, Yuri, Tinkle, Bradley T, Markham, Larry W, Cripe, Linda H, Hyland, James C, Witte, David, Hopkin, Robert J, Hinton, Robert B
Published in Congenital heart disease (01.09.2007)

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Journal Article

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

by Hartikka, Heini, Kuurila, Kaija, Körkkö, Jarmo, Kaitila, Ilkka, Grénman, Reidar, Pynnönen, Seppo, Hyland, James C., Ala-Kokko, Leena
Published in Human mutation (01.11.2004)

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Journal Article

$A dominantly inherited spondylometaphyseal dysplasia with “corner fractures” and congenital scoliosis$

A dominantly inherited spondylometaphyseal dysplasia with “corner fractures” and congenital scoliosis

by Sutton, V. Reid, Hyland, James C., Phillips, William A., Schlesinger, Alan E., Brill, Paula W.
Published in American journal of medical genetics. Part A (01.03.2005)

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Journal Article

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

by Regalado, Ellen S, Guo, Dong-chuan, Prakash, Siddharth, Bensend, Tracy A, Flynn, Kelly, Estrera, Anthony, Safi, Hazim, Liang, David, Hyland, James, Child, Anne, Arno, Gavin, Boileau, Catherine, Jondeau, Guillaume, Braverman, Alan, Moran, Rocio, Morisaki, Takayuki, Morisaki, Hiroko, Pyeritz, Reed, Coselli, Joseph, LeMaire, Scott, Milewicz, Dianna M
Published in Circulation. Cardiovascular genetics (01.06.2015)

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Journal Article

Extracting Doppler From WiFi Signals Reflected from Moving Targets for Target Tracking

Extracting Doppler From WiFi Signals Reflected from Moving Targets for Target Tracking

by Moon, Todd K., Hyland, James, Altice, Bridger, Gunther, Jacob H.
Published in 2023 57th Asilomar Conference on Signals, Systems, and Computers (29.10.2023)

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Conference Proceeding

A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene

A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene

by Pousi, Birgitta, Hautala, Timo, Hyland, James C., Schröter, Jukka, Eckes, Beate, Kivirikko, Kari I., Myllylä, Raili
Published in Human mutation (1998)

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Journal Article

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