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BooksTranscribed ✓
New discoveries concerning the world and its inhabitants ...
Publisher:London : Printed for J. Johnson ... , 1778.
Date:1778.
Call Numbers:980/N , RB/DS990A/65 , 77/23 , DSM/980/N , RB/DS909.8A/114
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Maps
Chart of the N.W. coast of America and the N.E. coast of Asia explored in the years 1778 and 1779 [cartographic material] / prepared by Lieut. Hen.y Roberts under the immediate inspection of Capt. Coo...
Author / Creator:Roberts, Henry, 1757-1796.
Publisher:London : Wm. Faden, Geographer to the King, Charing Cross, 1784.
Date:1784.
Call Numbers:MT2 603/1784/1B , MT2 603/1784/1A , MT2 603/1784/1C
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Pictures | Photographs
Scott family - collection of studio portrait photographs
Date:approximately 1865-1900, 1902, 1908, 1921
Call Numbers:PXA 1023
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29 FILES
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Pictures
Collection 23: Australian fishes, 1774-1794 / George Raper, and unknown artist
Author / Creator:Raper, George, 1769-1797
Date:1774-1794
Call Numbers:SAFE/PXD 18
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18 FILES
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Pictures | Photographs
Item 1: V.A.D. portraits by Julie Leslie.
Date:ca. 1940
Call Numbers:PXE 1692/vol. 54/Item 1
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ArticlesPeer ReviewedFull Text
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Author / Creator:Sharma, Vikram P ; Fenwick, Aimée L ; Brockop, Mia S ; McGowan, Simon J ; Goos, Jacqueline A C ; Hoogeboom, A Jeannette M ; Brady, Angela F ; Jeelani, Nu Owase ; Lynch, Sally Ann ; Mulliken, John B ; Murray, Dylan J ; Phipps, Julie M ; Sweeney, Elizabeth ; Tomkins, Susan E ; Wilson, Louise C ; Bennett, Sophia ; Cornall, Richard J ; Broxholme, John ; Kanapin, Alexander ; Johnson, David ; Wall, Steven A ; van der Spek, Peter J ; Mathijssen, Irene M J ; Maxson, Robert E ; Twigg, Stephen R F ; Wilkie, Andrew O M
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-03, Vol.45 (3), p.304-307
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ArticlesPeer ReviewedFull Text
Diagnostic value of exome and whole genome sequencing in craniosynostosis
Author / Creator:Miller, Kerry A ; Twigg, Stephen R F ; McGowan, Simon J ; Phipps, Julie M ; Fenwick, Aimée L ; Johnson, David ; Wall, Steven A ; Noons, Peter ; Rees, Katie E M ; Tidey, Elizabeth A ; Craft, Judith ; Taylor, John ; Taylor, Jenny C ; Goos, Jacqueline A C ; Swagemakers, Sigrid M A ; Mathijssen, Irene M J ; van der Spek, Peter J ; Lord, Helen ; Lester, Tracy ; Abid, Noina ; Cilliers, Deirdre ; Hurst, Jane A ; Morton, Jenny E V ; Sweeney, Elizabeth ; Weber, Astrid ; Wilson, Louise C ; Wilkie, Andrew O M
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2017-04, Vol.54 (4), p.260-268
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ArticlesPeer ReviewedFull Text
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Author / Creator:Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi ; Swagemakers, Sigrid M. A. ; Koelling, Nils ; McGowan, Simon J. ; Phipps, Julie M. ; Balasubramanian, Meena ; Cunningham, Michael L. ; Douzgou, Sofia ; Lattanzi, Wanda ; Morton, Jenny E. V. ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C. ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A. ; Twigg, Stephen R. F. ; Mathijssen, Irene M. J. ; Boardman-Pretty, Freya ; Boyadjiev, Simeon A. ; Wilkie, Andrew O. M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1498-1506
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ArticlesPeer ReviewedFull Text
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Author / Creator:Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi ; Swagemakers, Sigrid M. A. ; Koelling, Nils ; McGowan, Simon J. ; Phipps, Julie M. ; Balasubramanian, Meena ; Cunningham, Michael L. ; Douzgou, Sofia ; Lattanzi, Wanda ; Morton, Jenny E. V. ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C. ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A. ; Twigg, Stephen R. F. ; Mathijssen, Irene M. J. ; Boardman-Pretty, Freya ; Boyadjiev, Simeon A. ; Wilkie, Andrew O. M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1567-1567
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ArticlesPeer ReviewedFull Text
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Author / Creator:Sharma, Vikram P ; Fenwick, Aimee L ; Brockop, Mia S ; McGowan, Simon J ; Goos, Jacqueline A C ; Hoogeboom, A Jeannette M ; Brady, Angela F ; Jeelani, Nu Owase ; Lynch, Sally Ann ; Mulliken, John B ; Murray, Dylan J ; Phipps, Julie M ; Sweeney, Elizabeth ; Tomkins, Susan E ; Wilson, Louise C ; Bennett, Sophia ; Cornall, Richard J ; Broxholme, John ; Kanapin, Alexander ; Johnson, David ; Wall, Steven A ; van der Spek, Peter J ; Mathijssen, Irene M J ; Maxson, Robert E ; Twigg, Stephen R F ; Wilkie, Andrew O M
Journal title:Nature genetics, 2013-10, Vol.45 (10), p.1261-1261
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ArticlesPeer ReviewedFull Text
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis
Author / Creator:Justice, Cristina M. ; Cuellar, Araceli ; Bala, Krithi ; Sabourin, Jeremy A. ; Cunningham, Michael L. ; Crawford, Karen ; Phipps, Julie M. ; Zhou, Yan ; Cilliers, Deirdre ; Byren, Jo C. ; Johnson, David ; Wall, Steven A. ; Morton, Jenny E. V. ; Noons, Peter ; Sweeney, Elizabeth ; Weber, Astrid ; Rees, Katie E. M. ; Wilson, Louise C. ; Simeonov, Emil ; Kaneva, Radka ; Yaneva, Nadezhda ; Georgiev, Kiril ; Bussarsky, Assen ; Senders, Craig ; Zwienenberg, Marike ; Boggan, James ; Roscioli, Tony ; Tamburrini, Gianpiero ; Barba, Marta ; Conway, Kristin ; Sheffield, Val C. ; Brody, Lawrence ; Mills, James L. ; Kay, Denise ; Sicko, Robert J. ; Langlois, Peter H. ; Tittle, Rachel K. ; Botto, Lorenzo D. ; Jenkins, Mary M. ; LaSalle, Janine M. ; Lattanzi, Wanda ; Wilkie, Andrew O. M. ; Wilson, Alexander F. ; Romitti, Paul A. ; Boyadjiev, Simeon A.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2020-08, Vol.139 (8), p.1077-1090
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ArticlesPeer ReviewedFull Text
SMAD6 variants incraniosynostosis: genotype and phenotype evaluation
Author / Creator:Calpena Eduardo ; Cuellar Araceli ; Bala Krithi ; Swagemakers Sigrid M A ; Koelling Nils ; McGowan, Simon J ; Phipps, Julie M ; Balasubramanian Meena ; Cunningham, Michael L ; Douzgou Sofia ; Lattanzi Wanda ; Morton, Jenny E ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A ; Twigg Stephen R F ; Mathijssen Irene M J ; Boardman-Pretty Freya ; Boardman-Pretty, F ; Boyadjiev, Simeon A ; Wilkie Andrew O M
Publisher:Bethesda: Elsevier Limited
Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1498-1506
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ArticlesPeer ReviewedFull Text
Erratum: Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Author / Creator:Sharma, Vikram P ; Fenwick, Aimée L ; Brockop, Mia S ; McGowan, Simon J ; Goos, Jacqueline A C ; Hoogeboom, A Jeannette M ; Brady, Angela F ; Jeelani, Nu Owase ; Lynch, Sally Ann ; Mulliken, John B ; Murray, Dylan J ; Phipps, Julie M ; Sweeney, Elizabeth ; Tomkins, Susan E ; Wilson, Louise C ; Bennett, Sophia ; Cornall, Richard J ; Broxholme, John ; Kanapin, Alexander ; Johnson, David ; Wall, Steven A ; van der Spek, Peter J ; Mathijssen, Irene M J ; Maxson, Robert E ; Twigg, Stephen R F ; Wilkie, Andrew O M
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-10, Vol.45 (10), p.1261-1261
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ArticlesPeer ReviewedFull Text
Mutations of TCF12 , encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Author / Creator:Sharma, Vikram P ; Fenwick, Aimée L ; Brockop, Mia S ; McGowan, Simon J ; Goos, Jacqueline AC ; Hoogeboom, A Jeannette M ; Brady, Angela F ; Jeelani, Owase ; Lynch, Sally Ann ; Mulliken, John B ; Murray, Dylan J ; Phipps, Julie M ; Sweeney, Elizabeth ; Tomkins, Susan E ; Wilson, Louise C ; Bennett, Sophia ; Cornall, Richard J ; Broxholme, John ; Kanapin, Alexander ; Donnelly, Peter ; Johnson, David ; Wall, Steven A ; van der Spek, Peter J ; Mathijssen, Irene MJ ; Maxson, Robert E ; Twigg, Stephen RF ; Wilkie, Andrew OM, Prof
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 2013-02, Vol.381, p.S114-S114
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New discoveries concerning the world and its inhabitants ...

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Chart of the N.W. coast of America and the N.E. coast of Asia explored in the years 1778 and 1779 [cartographic material] / prepared by Lieut. Hen.y Roberts under the immediate inspection of Capt. Coo...

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Scott family - collection of studio portrait photographs

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Collection 23: Australian fishes, 1774-1794 / George Raper, and unknown artist

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Item 1: V.A.D. portraits by Julie Leslie.

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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

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Diagnostic value of exome and whole genome sequencing in craniosynostosis

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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

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Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

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SMAD6 variants incraniosynostosis: genotype and phenotype evaluation

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Erratum: Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

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Mutations of TCF12 , encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

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