M. Carlin

发表

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

P. Stankiewicz, Ankita Patel, S. Kang, 2014, European Journal of Human Genetics.

HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome

P. Stankiewicz, Z. Xia, S. Cheung, 2010, American journal of medical genetics. Part A.

Syndromes with Renal Malformations

J. Misiewicz, P. Benke, M. Carlin, 1986 .

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

J. Lupski, R. Gibbs, D. Muzny, 2022, Genome Medicine.

A form of X-linked mental retardation with marfanoid habitus.

H. Lubs, M. Carlin, J. Luján, 1984, American journal of medical genetics.

Case report: partial trisomy 12p associated with 4p deletion due to paternal t(12p-;4p+) translocation.

M. Carlin, C. Norman, 1978, Birth defects original article series.

Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy lpter→1p36.3. Case report with a 2‐year follow‐up and a brief review of other prenatal cases of partial trisomy 6q

M. Huslig, M. Kukolich, M. Carlin, 1997, Clinical genetics.

Heterogeneity in Wiedemann-Beckwith syndrome: anthropometric evidence.

E. Moore, R. Ward, M. Carlin, 2000, American journal of medical genetics.

Granulomatous lung disease with progressive deterioration of phagocytic function.

G. Mccracken, A. Weinberg, M. Carlin, 1972, The Journal of pediatrics.

Parental origin of chromosome 5 deletions in the cri-du-chat syndrome.

J. Wasmuth, E. Niebuhr, J. Overhauser, 1990, American journal of medical genetics.

Erratum: Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy 1pter→1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q (Clinical Genetics (1997) 51 (115-117))

M. Huslig, M. Kukolich, M. Carlin, 1997 .