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Volume 136; Issue 3
Main
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:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 2.44 MB
Your tags:
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:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 4.03 MB
Your tags:
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:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 1.14 MB
Your tags:
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:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 698 KB
Your tags:
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:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 1.43 MB
Your tags:
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:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 827 KB
Your tags:
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:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 363 KB
Your tags:
english, 2017
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