Results
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5241.
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Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. [electronic resource] by
- Graul-Neumann, Luitgard M
- Deichsel, Alexandra
- Wille, Ulrike
- Kakar, Naseebullah
- Koll, Randi
- Bassir, Christian
- Ahmad, Jamil
- Cormier-Daire, Valerie
- Mundlos, Stefan
- Kubisch, Christian
- Borck, Guntram
- Klopocki, Eva
- Mueller, Thomas D
- Doelken, Sandra C
- Seemann, Petra
Producer: 20150206
In:
European journal of human genetics : EJHG vol. 22
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5242.
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Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. [electronic resource] by
- Tran-Viet, Khanh-Nhat
- Powell, Caldwell
- Barathi, Veluchamy A
- Klemm, Thomas
- Maurer-Stroh, Sebastian
- Limviphuvadh, Vachiranee
- Soler, Vincent
- Ho, Candice
- Yanovitch, Tammy
- Schneider, Georg
- Li, Yi-Ju
- Nading, Erica
- Metlapally, Ravikanth
- Saw, Seang-Mei
- Goh, Liang
- Rozen, Steve
- Young, Terri L
Producer: 20130705
In:
American journal of human genetics vol. 92
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5243.
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5244.
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5245.
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Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene. [electronic resource] by
- Sergi, C
- Penzel, R
- Uhl, J
- Zoubaa, S
- Dietrich, H
- Decker, N
- Rieger, P
- Kopitz, J
- Otto, H F
- Kiessling, M
- Cantz, M
Producer: 20011207
In:
Human genetics vol. 109
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5246.
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5247.
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5248.
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Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. [electronic resource] by
- Sbaragli, Michele
- Bibi, Lucia
- Pittis, Maria Gabriela
- Balducci, Chiara
- Heikinheimo, Pirkko
- Ricci, Roberta
- Antuzzi, Daniela
- Parini, Rossella
- Spaccini, Luigina
- Bembi, Bruno
- Beccari, Tommaso
Producer: 20060516
In:
Human mutation vol. 25
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5249.
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Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis. [electronic resource] by
- Zhu, Hao-Jie
- Patrick, Kennerly S
- Yuan, Hong-Jie
- Wang, Jun-Sheng
- Donovan, Jennifer L
- DeVane, C Lindsay
- Malcolm, Robert
- Johnson, Julie A
- Youngblood, Geri L
- Sweet, Douglas H
- Langaee, Taimour Y
- Markowitz, John S
Producer: 20080627
In:
American journal of human genetics vol. 82
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5250.
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5251.
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A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice. [electronic resource] by
- Savage, David B
- Zhai, Lanmin
- Ravikumar, Balasubramanian
- Choi, Cheol Soo
- Snaar, Johanna E
- McGuire, Amanda C
- Wou, Sung-Eun
- Medina-Gomez, Gemma
- Kim, Sheene
- Bock, Cheryl B
- Segvich, Dyann M
- Solanky, Bhavana
- Deelchand, Dinesh
- Vidal-Puig, Antonio
- Wareham, Nicholas J
- Shulman, Gerald I
- Karpe, Fredrik
- Taylor, Roy
- Pederson, Bartholomew A
- Roach, Peter J
- O'Rahilly, Stephen
- DePaoli-Roach, Anna A
Producer: 20080306
In:
PLoS medicine vol. 5
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5252.
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5253.
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PB1-F2 expression by the 2009 pandemic H1N1 influenza virus has minimal impact on virulence in animal models. [electronic resource] by
- Hai, Rong
- Schmolke, Mirco
- Varga, Zsuzsanna T
- Manicassamy, Balaji
- Wang, Taia T
- Belser, Jessica A
- Pearce, Melissa B
- García-Sastre, Adolfo
- Tumpey, Terrence M
- Palese, Peter
Producer: 20100421
In:
Journal of virology vol. 84
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5254.
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5255.
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Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. [electronic resource] by
- Schraders, Margit
- Oostrik, Jaap
- Huygen, Patrick L M
- Strom, Tim M
- van Wijk, Erwin
- Kunst, Henricus P M
- Hoefsloot, Lies H
- Cremers, Cor W R J
- Admiraal, Ronald J C
- Kremer, Hannie
Producer: 20100422
In:
American journal of human genetics vol. 86
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5256.
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Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. [electronic resource] by
- Rehman, Atteeq Ur
- Morell, Robert J
- Belyantseva, Inna A
- Khan, Shahid Y
- Boger, Erich T
- Shahzad, Mohsin
- Ahmed, Zubair M
- Riazuddin, Saima
- Khan, Shaheen N
- Riazuddin, Sheikh
- Friedman, Thomas B
Producer: 20100415
In:
American journal of human genetics vol. 86
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5257.
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5258.
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5259.
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APC I1307K mutations and forkhead box gene (FOXO1A): another piece of an interesting correlation. [electronic resource] by
- Agostini, Marco
- Bedin, Chiara
- Pucciarelli, Salvatore
- Enzo, Mariavittoria
- Briarava, Marta
- Seraglia, Roberta
- Ragazzi, Eugenio
- Traldi, Pietro
- Molin, Laura
- Urso, Emanuele Damiano
- Mammi, Isabella
- Viel, Alessandra
- Lise, Mario
- Tasciotti, Ennio
- Biasiolo, Alessandra
- Pontisso, Patrizia
- Nitti, Donato
Producer: 20120814
In:
The International journal of biological markers vol. 27
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5260.
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Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). [electronic resource] by
- Nikopensius, T
- Annilo, T
- Jagomägi, T
- Gilissen, C
- Kals, M
- Krjutškov, K
- Mägi, R
- Eelmets, M
- Gerst-Talas, U
- Remm, M
- Saag, M
- Hoischen, A
- Metspalu, A
Producer: 20130801
In:
Journal of dental research vol. 92
Availability: No items available.
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