Works matching IS 23732873 AND DT 2022 AND VI 8 AND IP 6

Results: 6

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006169
By:
- Mark, Paul R.;
- Murray, Stephen A.;
- Tao Yang;
- Eby, Alexandra;
- Lai, Angela;
- Di Lu;
- Zieba, Jacob;
- Rajasekaran, Surender;
- VanSickle, Elizabeth A.;
- Rossetti, Linda Z.;
- Guidugli, Lucia;
- Watkins, Kelly;
- Wright, Meredith S.;
- Bupp, Caleb P.;
- Prokop, Jeremy W.
Publication type:
Article
Comprehensive molecular characterization of a rare case of Philadelphia chromosome--positive acute myeloid leukemia.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006218
By:
- Rosenberg, Mara W.;
- Savage, Samantha L.;
- Eide, Christopher A.;
- Schultz, Anna Reister;
- Cook, Rachel J.;
- Press, Richard D.;
- Rempfer, Carole;
- Eickelberg, Garrett;
- Wilmot, Beth;
- McWeeney, Shannon K.;
- Tyner, Jeffrey W.;
- Druker, Brian J.;
- Tognon, Cristina E.
Publication type:
Article
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006236
By:
- Nielsen, Emilie Neerup;
- Ásbjörnsdóttir, Birna;
- Møller, Lisbeth Birk;
- Nielsen, Jørgen Erik;
- Lindquist, Suzanne Granhøj
Publication type:
Article
Discovery and functional characterization of the oncogenicity and targetability of a novel NOTCH1--ROS1 gene fusion in pediatric angiosarcoma.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006222
By:
- Jain, Payal;
- Iyer, Sudarshan;
- Straka, Joshua;
- Surrey, Lea F.;
- Pogoriler, Jennifer;
- Han, Harry;
- Smith, Tiffany;
- Busch, Christine;
- Fox, Elizabeth;
- Li, Marilyn;
- Waanders, Angela J.;
- Resnick, Adam;
- Davare, Monika A.
Publication type:
Article
A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006213
By:
- Elgaz, Sümeyye;
- Wittekindt, Boris;
- Esmaeili, Anoosh;
- Fischer, Sebastian;
- Bolz, Hanno J.;
- Zechner, Ulrich;
- Buxmann, Horst
Publication type:
Article
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006232
By:
- Freua, Fernando;
- Espíndola de Castro Almeida, Mariana;
- Ribeiro Nóbrega, Paulo;
- Rodrigues Brandão de Paiva, Anderson;
- Della-Ripa, Bruno;
- Cunha, Paulina;
- Macedo-Souza, Lúcia Inês;
- Bueno, Clarissa;
- Lynch, David S.;
- Houlden, Henry;
- Tavares Lucato, Leandro;
- Kok, Fernando
Publication type:
Article

Works matching IS 23732873 AND DT 2022 AND VI 8 AND IP 6

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.

Comprehensive molecular characterization of a rare case of Philadelphia chromosome--positive acute myeloid leukemia.

Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.

Discovery and functional characterization of the oncogenicity and targetability of a novel NOTCH1--ROS1 gene fusion in pediatric angiosarcoma.

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.