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Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. [electronic resource] by
- Archibald, Alison Dalton
- Smith, Melanie Jane
- Burgess, Trent
- Scarff, Katrina Louise
- Elliott, Justine
- Hunt, Clare Elizabeth
- McDonald, Zoe
- Barns-Jenkins, Caitlin
- Holt, Chelsea
- Sandoval, Karina
- Siva Kumar, Vanessa
- Ward, Lisa
- Allen, Emily Caroline
- Collis, Sarah Valerie
- Cowie, Shannon
- Francis, David
- Delatycki, Martin B
- Yiu, Eppie Mildred
- Massie, R John
- Pertile, Mark Domenic
- du Sart, Desirée
- Bruno, Damien
- Amor, David J
Producer: 20180926
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. [electronic resource] by
- Bruno, Damien L
- Anderlid, Britt-Marie
- Lindstrand, Anna
- van Ravenswaaij-Arts, Conny
- Ganesamoorthy, Devika
- Lundin, Johanna
- Martin, Christa Lese
- Douglas, Jessica
- Nowak, Catherine
- Adam, Margaret P
- Kooy, R Frank
- Van der Aa, Nathalie
- Reyniers, Edwin
- Vandeweyer, Geert
- Stolte-Dijkstra, Irene
- Dijkhuizen, Trijnie
- Yeung, Alison
- Delatycki, Martin
- Borgström, Birgit
- Thelin, Lena
- Cardoso, Carlos
- van Bon, Bregje
- Pfundt, Rolph
- de Vries, Bert B A
- Wallin, Anders
- Amor, David J
- James, Paul A
- Slater, Howard R
- Schoumans, Jacqueline
Producer: 20100728
In:
Journal of medical genetics vol. 47
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Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening. [electronic resource] by
- Metcalfe, Sylvia A
- Martyn, Melissa
- Ames, Alice
- Anderson, Vicki
- Archibald, Alison D
- Couns, Grad Dip Gen
- Carter, Rob
- Cohen, Jonathan
- Cotter, Megan
- GenCouns, M
- Dang, William
- Delatycki, Martin B
- Donath, Susan
- Edwards, Samantha
- Educ, PGrad Dip
- Couns, Grad Dip Gen
- Forbes, Robin
- Couns, Grad Dip Gen
- Gavrila, Mioara
- MedSci, M
- Halliday, Jane
- Hickerton, Chriselle
- Hill, Melissa
- Couns, Grad Dip Gen
- Jacobs, Lorilli
- Ultrasound, PGrad Dip
- Petrou, Vicki
- Couns, Grad Dip Gen
- Plunkett, Loren
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- Sheffield, Leslie
- Racp, F
- Thornton, Alison
- Couns, Grad Dip Gen
- Younie, Sandra
- Econ, PGrad Dip Hlth
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Producer: 20180717
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
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Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. [electronic resource] by
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- Coleman, Matthew
- Braden, Ruth O
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- Rigbye, Kristin A
- Boys, Amber
- Barton, Sarah
- Webster, Richard
- Fahey, Michael
- Saunders, Kerryn
- Parry-Fielder, Bronwyn
- Paxton, Georgia
- Hayman, Michael
- Coman, David
- Goel, Himanshu
- Baxter, Anne
- Ma, Alan
- Davis, Noni
- Reilly, Sheena
- Delatycki, Martin
- Liégeois, Frederique J
- Connelly, Alan
- Gecz, Jozef
- Fisher, Simon E
- Amor, David J
- Scheffer, Ingrid E
- Bahlo, Melanie
- Morgan, Angela T
Producer: 20200903
In:
Neurology vol. 94
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Pathogenic Variants in GPC4 Cause Keipert Syndrome. [electronic resource] by
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- Mustapha, Mirna
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- Phelan, Dean G
- Shinawi, Marwan
- de Brouwer, Arjan P M
- Pfundt, Rolph
- Dowling, Cari
- Toler, Tomi L
- Sutton, V Reid
- Agolini, Emanuele
- Rinelli, Martina
- Capolino, Rossella
- Martinelli, Diego
- Zampino, Giuseppe
- Dumić, Miroslav
- Reardon, William
- Shaw-Smith, Charles
- Leventer, Richard J
- Delatycki, Martin B
- Kleefstra, Tjitske
- Mundlos, Stefan
- Mortier, Geert
- Bahlo, Melanie
- Allen, Nicola J
- Lockhart, Paul J
Producer: 20200206
In:
American journal of human genetics vol. 104
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Leigh syndrome caused by mutations in [electronic resource] by
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- Alston, Charlotte L
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- Thompson, Kyle
- Rius, Rocio
- He, Langping
- Hopton, Sila
- Ploski, Rafal
- Ciara, Elzbieta
- Lake, Nicole J
- Compton, Alison G
- Delatycki, Martin B
- Verrips, Aad
- Bonnen, Penelope E
- Jones, Simon A
- Morris, Andrew A
- Shakespeare, David
- Christodoulou, John
- Wesol-Kucharska, Dorota
- Rokicki, Dariusz
- Smeets, Hubert J M
- Pronicka, Ewa
- Thorburn, David R
- Gorman, Grainne S
- McFarland, Robert
- Taylor, Robert W
- Ng, Yi Shiau
Producer: 20200320
In:
Annals of clinical and translational neurology vol. 6
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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. [electronic resource] by
- Rafehi, Haloom
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- Bennett, Mark F
- Sobreira, Nara L M
- Pope, Kate
- Smith, Katherine R
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- Dolzhenko, Egor
- Eberle, Michael A
- Barcina, María García
- Breen, David P
- Chancellor, Andrew M
- Cremer, Phillip D
- Delatycki, Martin B
- Fogel, Brent L
- Hackett, Anna
- Halmagyi, G Michael
- Kapetanovic, Solange
- Lang, Anthony
- Mossman, Stuart
- Mu, Weiyi
- Patrikios, Peter
- Perlman, Susan L
- Rosemergy, Ian
- Storey, Elsdon
- Watson, Shaun R D
- Wilson, Michael A
- Zee, David S
- Valle, David
- Amor, David J
- Bahlo, Melanie
- Lockhart, Paul J
Producer: 20200311
In:
American journal of human genetics vol. 105
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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. [electronic resource] by
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- Vaz, Bruno
- Halder, Swagata
- Lockhart, Paul J
- Marinovic-Terzic, Ivana
- Lopez-Mosqueda, Jaime
- Philipp, Melanie
- Sim, Joe C H
- Smith, Katherine R
- Oehler, Judith
- Cabrera, Elisa
- Freire, Raimundo
- Pope, Kate
- Nahid, Amsha
- Norris, Fiona
- Leventer, Richard J
- Delatycki, Martin B
- Barbi, Gotthold
- von Ameln, Simon
- Högel, Josef
- Degoricija, Marina
- Fertig, Regina
- Burkhalter, Martin D
- Hofmann, Kay
- Thiele, Holger
- Altmüller, Janine
- Nürnberg, Gudrun
- Nürnberg, Peter
- Bahlo, Melanie
- Martin, George M
- Aalfs, Cora M
- Oshima, Junko
- Terzic, Janos
- Amor, David J
- Dikic, Ivan
- Ramadan, Kristijan
- Kubisch, Christian
Producer: 20150120
In:
Nature genetics vol. 46
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Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. [electronic resource] by
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- Sim, Joe C H
- McLean, Catriona
- Giannandrea, Maila
- Galea, Charles A
- Riseley, Jessica R
- Stephenson, Sarah E M
- Fitzpatrick, Elizabeth
- Haas, Stefan A
- Pope, Kate
- Hogan, Kirk J
- Gregg, Ronald G
- Bromhead, Catherine J
- Wargowski, David S
- Lawrence, Christopher H
- James, Paul A
- Churchyard, Andrew
- Gao, Yujing
- Phelan, Dean G
- Gillies, Greta
- Salce, Nicholas
- Stanford, Lynn
- Marsh, Ashley P L
- Mignogna, Maria L
- Hayflick, Susan J
- Leventer, Richard J
- Delatycki, Martin B
- Mellick, George D
- Kalscheuer, Vera M
- D'Adamo, Patrizia
- Bahlo, Melanie
- Amor, David J
- Lockhart, Paul J
Producer: 20150227
In:
American journal of human genetics vol. 95
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A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. [electronic resource] by
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- Garrett, Lillian
- Hölter, Sabine M
- Rathkolb, Birgit
- Rácz, Ildikó
- Adler, Thure
- Prehn, Cornelia
- Hans, Wolfgang
- Rozman, Jan
- Becker, Lore
- Aguilar-Pimentel, Juan Antonio
- Puk, Oliver
- Moreth, Kristin
- Dopatka, Monika
- Walther, Diego J
- von Bohlen Und Halbach, Viola
- Rath, Matthias
- Delatycki, Martin
- Bert, Bettina
- Fink, Heidrun
- Blümlein, Katharina
- Ralser, Markus
- Van Dijck, Anke
- Kooy, Frank
- Stark, Zornitza
- Müller, Sabine
- Scherthan, Harry
- Gecz, Jozef
- Wurst, Wolfgang
- Wolf, Eckhard
- Zimmer, Andreas
- Klingenspor, Martin
- Graw, Jochen
- Klopstock, Thomas
- Busch, Dirk
- Adamski, Jerzy
- Fuchs, Helmut
- Gailus-Durner, Valérie
- de Angelis, Martin Hrabě
- von Bohlen Und Halbach, Oliver
- Ropers, Hans-Hilger
- Kuss, Andreas W
Producer: 20200427
In:
Biochimica et biophysica acta. Molecular basis of disease vol. 1865
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C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. [electronic resource] by
- Richards, Anna
- van den Maagdenberg, Arn M J M
- Jen, Joanna C
- Kavanagh, David
- Bertram, Paula
- Spitzer, Dirk
- Liszewski, M Kathryn
- Barilla-Labarca, Maria-Louise
- Terwindt, Gisela M
- Kasai, Yumi
- McLellan, Mike
- Grand, Mark Gilbert
- Vanmolkot, Kaate R J
- de Vries, Boukje
- Wan, Jijun
- Kane, Michael J
- Mamsa, Hafsa
- Schäfer, Ruth
- Stam, Anine H
- Haan, Joost
- de Jong, Paulus T V M
- Storimans, Caroline W
- van Schooneveld, Mary J
- Oosterhuis, Jendo A
- Gschwendter, Andreas
- Dichgans, Martin
- Kotschet, Katya E
- Hodgkinson, Suzanne
- Hardy, Todd A
- Delatycki, Martin B
- Hajj-Ali, Rula A
- Kothari, Parul H
- Nelson, Stanley F
- Frants, Rune R
- Baloh, Robert W
- Ferrari, Michel D
- Atkinson, John P
Producer: 20071127
In:
Nature genetics vol. 39
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. [electronic resource] by
- Marsh, Ashley P L
- Heron, Delphine
- Edwards, Timothy J
- Quartier, Angélique
- Galea, Charles
- Nava, Caroline
- Rastetter, Agnès
- Moutard, Marie-Laure
- Anderson, Vicki
- Bitoun, Pierre
- Bunt, Jens
- Faudet, Anne
- Garel, Catherine
- Gillies, Greta
- Gobius, Ilan
- Guegan, Justine
- Heide, Solveig
- Keren, Boris
- Lesne, Fabien
- Lukic, Vesna
- Mandelstam, Simone A
- McGillivray, George
- McIlroy, Alissandra
- Méneret, Aurélie
- Mignot, Cyril
- Morcom, Laura R
- Odent, Sylvie
- Paolino, Annalisa
- Pope, Kate
- Riant, Florence
- Robinson, Gail A
- Spencer-Smith, Megan
- Srour, Myriam
- Stephenson, Sarah E M
- Tankard, Rick
- Trouillard, Oriane
- Welniarz, Quentin
- Wood, Amanda
- Brice, Alexis
- Rouleau, Guy
- Attié-Bitach, Tania
- Delatycki, Martin B
- Mandel, Jean-Louis
- Amor, David J
- Roze, Emmanuel
- Piton, Amélie
- Bahlo, Melanie
- Billette de Villemeur, Thierry
- Sherr, Elliott H
- Leventer, Richard J
- Richards, Linda J
- Lockhart, Paul J
- Depienne, Christel
Producer: 20170905
In:
Nature genetics vol. 49
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253.
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. [electronic resource] by
- Stessman, Holly A F
- Xiong, Bo
- Coe, Bradley P
- Wang, Tianyun
- Hoekzema, Kendra
- Fenckova, Michaela
- Kvarnung, Malin
- Gerdts, Jennifer
- Trinh, Sandy
- Cosemans, Nele
- Vives, Laura
- Lin, Janice
- Turner, Tychele N
- Santen, Gijs
- Ruivenkamp, Claudia
- Kriek, Marjolein
- van Haeringen, Arie
- Aten, Emmelien
- Friend, Kathryn
- Liebelt, Jan
- Barnett, Christopher
- Haan, Eric
- Shaw, Marie
- Gecz, Jozef
- Anderlid, Britt-Marie
- Nordgren, Ann
- Lindstrand, Anna
- Schwartz, Charles
- Kooy, R Frank
- Vandeweyer, Geert
- Helsmoortel, Celine
- Romano, Corrado
- Alberti, Antonino
- Vinci, Mirella
- Avola, Emanuela
- Giusto, Stefania
- Courchesne, Eric
- Pramparo, Tiziano
- Pierce, Karen
- Nalabolu, Srinivasa
- Amaral, David G
- Scheffer, Ingrid E
- Delatycki, Martin B
- Lockhart, Paul J
- Hormozdiari, Fereydoun
- Harich, Benjamin
- Castells-Nobau, Anna
- Xia, Kun
- Peeters, Hilde
- Nordenskjöld, Magnus
- Schenck, Annette
- Bernier, Raphael A
- Eichler, Evan E
Producer: 20170905
In:
Nature genetics vol. 49
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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. [electronic resource] by
- Koczkowska, Magdalena
- Callens, Tom
- Chen, Yunjia
- Gomes, Alicia
- Hicks, Alesha D
- Sharp, Angela
- Johns, Eric
- Uhas, Kim Armfield
- Armstrong, Linlea
- Bosanko, Katherine Armstrong
- Babovic-Vuksanovic, Dusica
- Baker, Laura
- Basel, Donald G
- Bengala, Mario
- Bennett, James T
- Chambers, Chelsea
- Clarkson, Lola K
- Clementi, Maurizio
- Cortés, Fanny M
- Cunningham, Mitch
- D'Agostino, M Daniela
- Delatycki, Martin B
- Digilio, Maria C
- Dosa, Laura
- Esposito, Silvia
- Fox, Stephanie
- Freckmann, Mary-Louise
- Fauth, Christine
- Giugliano, Teresa
- Giustini, Sandra
- Goetsch, Allison
- Goldberg, Yael
- Greenwood, Robert S
- Griffis, Cristin
- Gripp, Karen W
- Gupta, Punita
- Haan, Eric
- Hachen, Rachel K
- Haygarth, Tamara L
- Hernández-Chico, Concepción
- Hodge, Katelyn
- Hopkin, Robert J
- Hudgins, Louanne
- Janssens, Sandra
- Keller, Kory
- Kelly-Mancuso, Geraldine
- Kochhar, Aaina
- Korf, Bruce R
- Lewis, Andrea M
- Liebelt, Jan
- Lichty, Angie
- Listernick, Robert H
- Lyons, Michael J
- Maystadt, Isabelle
- Martinez Ojeda, Mayra
- McDougall, Carey
- McGregor, Lesley K
- Melis, Daniela
- Mendelsohn, Nancy
- Nowaczyk, Malgorzata J M
- Ortenberg, June
- Panzer, Karin
- Pappas, John G
- Pierpont, Mary Ella
- Piluso, Giulio
- Pinna, Valentina
- Pivnick, Eniko K
- Pond, Dinel A
- Powell, Cynthia M
- Rogers, Caleb
- Ruhrman Shahar, Noa
- Rutledge, S Lane
- Saletti, Veronica
- Sandaradura, Sarah A
- Santoro, Claudia
- Schatz, Ulrich A
- Schreiber, Allison
- Scott, Daryl A
- Sellars, Elizabeth A
- Sheffer, Ruth
- Siqveland, Elizabeth
- Slopis, John M
- Smith, Rosemarie
- Spalice, Alberto
- Stockton, David W
- Streff, Haley
- Theos, Amy
- Tomlinson, Gail E
- Tran, Grace
- Trapane, Pamela L
- Trevisson, Eva
- Ullrich, Nicole J
- Van den Ende, Jenneke
- Schrier Vergano, Samantha A
- Wallace, Stephanie E
- Wangler, Michael F
- Weaver, David D
- Yohay, Kaleb H
- Zackai, Elaine
- Zonana, Jonathan
- Zurcher, Vickie
- Claes, Kathleen B M
- Eoli, Marica
- Martin, Yolanda
- Wimmer, Katharina
- De Luca, Alessandro
- Legius, Eric
- Messiaen, Ludwine M
Producer: 20210519
In:
Human mutation vol. 41
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