Volume 136; Issue 3

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Human Genetics
Volume 136; Issue 3

Human Genetics

Volume 136; Issue 3

1

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations betweenFOXE1and all orofacial clefts, andTP63and cleft lip with or without cleft palate

Leslie, Elizabeth J., Carlson, Jenna C., Shaffer, John R., Butali, Azeez, Buxó, Carmen J., Castilla, Eduardo E., Christensen, Kaare, Deleyiannis, Fred W. B., Leigh Field, L., Hecht, Jacqueline T., Mor

Journal:

Year:

2017

Language:

english

File:

PDF, 2.44 MB

english, 2017

2

Association of AHSG with alopecia and mental retardation (APMR) syndrome

Reza Sailani, M., Jahanbani, Fereshteh, Nasiri, Jafar, Behnam, Mahdiyeh, Salehi, Mansoor, Sedghi, Maryam, Hoseinzadeh, Majid, Takahashi, Shinichi, Zia, Amin, Gruber, Joshua, Lynch, Janet Linnea, Lam,

Journal:

Year:

2017

Language:

english

File:

PDF, 4.03 MB

english, 2017

3

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Parenti, Ilaria, Teresa-Rodrigo, María E., Pozojevic, Jelena, Ruiz Gil, Sara, Bader, Ingrid, Braunholz, Diana, Bramswig, Nuria C., Gervasini, Cristina, Larizza, Lidia, Pfeiffer, Lutz, Ozkinay, Ferda,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.14 MB

english, 2017

4

Heterozygosity forARID2loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

Bramswig, Nuria C., Caluseriu, O., Lüdecke, H.-J., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H. M., Christen, H.-J., Engels, H., Strom, T. M., Wieczorek, D.

Journal:

Year:

2017

Language:

english

File:

PDF, 698 KB

english, 2017

5

NovelFAM134Bmutations and their clinicopathological significance in colorectal cancer

Islam, Farhadul, Gopalan, Vinod, Wahab, Riajul, Lee, Katherine Ting-wei, Haque, Md. Hakimul, Mamoori, Afraa, Lu, Cu-tai, Smith, Robert A., Lam, Alfred K.-Y.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.43 MB

english, 2017

6

Compound heterozygousGATA5mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

Hempel, Maja, Casar Tena, Teresa, Diehl, Thilo, Burczyk, Martina S., Strom, Tim M., Kubisch, Christian, Philipp, Melanie, Lessel, Davor

Journal:

Year:

2017

Language:

english

File:

PDF, 827 KB

english, 2017

7

Erratum to:IL8gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability

Larissa Lazzarini Furlan,Fernando Augusto Lima Marson…

Journal:

Year:

2017

Language:

english

File:

PDF, 363 KB

english, 2017