Human molecular genetics

A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.

Human molecular genetics

Geister KA, Brinkmeier ML, Hsieh M, Faust SM, Karolyi IJ, Perosky JE, Kozloff KM, Conti M, Camper SA

A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.

Human molecular genetics

Geister KA, Brinkmeier ML, Hsieh M, Faust SM, Karolyi IJ, Perosky JE, Kozloff KM, Conti M, Camper SA

Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Human molecular genetics

Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N

Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Human molecular genetics

Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N

Tbx1 regulates oral epithelial adhesion and palatal development.

Human molecular genetics

Funato N, Nakamura M, Richardson JA, Srivastava D, Yanagisawa H

Tbx1 regulates oral epithelial adhesion and palatal development.

Human molecular genetics

Funato N, Nakamura M, Richardson JA, Srivastava D, Yanagisawa H

Transcriptional analysis of pluripotency reveals the Hippo pathway as a barrier to reprogramming.

Human molecular genetics

Qin H, Blaschke K, Wei G, Ohi Y, Blouin L, Qi Z, Yu J, Yeh RF, Hebrok M, Ramalho-Santos M

Transcriptional analysis of pluripotency reveals the Hippo pathway as a barrier to reprogramming.

Human molecular genetics

Qin H, Blaschke K, Wei G, Ohi Y, Blouin L, Qi Z, Yu J, Yeh RF, Hebrok M, Ramalho-Santos M

Impaired neural development in a zebrafish model for Lowe syndrome.

Human molecular genetics

Ramirez IB, Pietka G, Jones DR, Divecha N, Alia A, Baraban SC, Hurlstone AF, Lowe M

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