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Volume 2011
Main
Case Reports in Genetics
Volume 2011
Case Reports in Genetics
Volume 2011
1
Synchronous Pulmonary Squamous Cell Carcinoma and Mantle Cell Lymphoma of the Lymph Node
Sun, Yu
,
Shi, Yun-Fei
,
Zhou, Li-Xin
,
Chen, Ke-Neng
,
Li, Xiang-Hong
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 2.75 MB
Your tags:
english, 2011
2
A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband
Wilson, Nicole K. A.
,
Lee, Yohan
,
Long, Robert
,
Hermetz, Karen
,
Rudd, M. Katharine
,
Miller, Rachel
,
Rapoport, Judith L.
,
Addington, Anjené M.
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 2.63 MB
Your tags:
english, 2011
3
Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6
Ganguly, Bani Bandana
,
Kadam, Vijay
,
Kadam, Nitin N.
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 3.24 MB
Your tags:
english, 2011
4
Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation
Fredheim, Siri
,
Svensson, Jannet
,
Pørksen, Sven
,
Hansen, Lars
,
Hansen, Torben
,
Pedersen, Oluf Borbye
,
Mortensen, Henrik Bindesbøl
,
Barbetti, Fabrizio
,
Nielsen, Lotte Brøndum
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 1.21 MB
Your tags:
english, 2011
5
A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
Birkebæk, N. H.
,
Sørensen, J. S.
,
Vikre-Jørgensen, J.
,
Jensen, P. K. A.
,
Pedersen, O.
,
Hansen, T.
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 1.25 MB
Your tags:
english, 2011
6
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome
Sharda, Sheetal
,
Panigrahi, Inusha
,
Marwaha, Ram Kumar
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 3.08 MB
Your tags:
english, 2011
7
Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome
Darcy, Diana C.
,
Rosenthal, Scott
,
Wallerstein, Robert J.
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 3.11 MB
Your tags:
english, 2011
8
Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability
Rogers, R. Curtis
,
Aufmuth, Bridgette
,
Monesson, Stephanie
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 2.32 MB
Your tags:
english, 2011
9
Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly
Aguinaga, M.
,
Llano, I.
,
Zenteno, J. C.
,
Kofman Alfaro, S.
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 1.27 MB
Your tags:
english, 2011
10
Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis
Kohannim, Omid
,
Peredo, Jane
,
Dipple, Katrina M.
,
Quintero-Rivera, Fabiola
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 1.87 MB
Your tags:
english, 2011
11
Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family
Abdalla, E. M.
,
Morsy, H.
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 1.88 MB
Your tags:
english, 2011
12
Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report
Mazzaschi, Roberto L. P.
,
Love, Donald R.
,
Hayes, Ian
,
George, Alice
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 1.98 MB
Your tags:
english, 2011
13
Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly
O'Connor, Rachel
,
Al-Murrani, Amel
,
Aftimos, Salim
,
Asquith, Philip
,
Mazzaschi, Roberto
,
Eyrolle-Guignot, Dominique
,
George, Alice M.
,
Love, Donald R.
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 1.81 MB
Your tags:
english, 2011
14
Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome
Sumekar, Tanjung A.
,
Ashrani, Aneel A.
,
Winarni, Tri I.
,
Hagerman, Randi J.
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 1.15 MB
Your tags:
english, 2011
15
Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene
Massa, Guy
,
Gillis, Philippe
,
Schwartz, Marianne
Journal:
Case Reports in Genetics
Year:
2011
File:
PDF, 2.13 MB
Your tags:
2011
16
Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene
Massa, Guy
,
Gillis, Philippe
,
Schwartz, Marianne
Journal:
Case Reports in Genetics
Year:
2011
Language:
english
File:
PDF, 2.13 MB
Your tags:
english, 2011
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